Evaluation

BRCA1 BayesDel gene-specific calibration

Scoped author-reported evaluation; read protocol and cohort limits before comparing.

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Release 2026-09-30-e37e3ab1284d · Evidence verified: Not verified

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Evaluation results

1 evaluation · 15 results. Different protocols are not a single leaderboard.

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Tested model or methodProtocolDatasetEvaluation setupMetricEvidence origin

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Exact evaluated configurations and original reported results
Tested configuration	Protocol and dataset	Finding	Evidence and details
Configuration: BayesDel with ENIGMA BRCA gene-specific score categories	Protocol: BRCA1 BayesDel evidence calibration Dataset: BRCA1 functional reference calibration set	149 high_benign_count count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source BRCA1 BayesDel gene-specific calibration Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Table 2, BRCA1, BayesDel ≥0.28, benign_count
Configuration: BayesDel with ENIGMA BRCA gene-specific score categories	Protocol: BRCA1 BayesDel evidence calibration Dataset: BRCA1 functional reference calibration set	12% high_benign_fraction percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source BRCA1 BayesDel gene-specific calibration Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Table 2, BRCA1, BayesDel ≥0.28, benign_fraction
Configuration: BayesDel with ENIGMA BRCA gene-specific score categories	Protocol: BRCA1 BayesDel evidence calibration Dataset: BRCA1 functional reference calibration set	7.09 high_likelihood_ratio likelihood ratio · unknown Uncertainty: type: confidence_interval; level: 0.95; lower: 6.06; upper: 8.30; printed: 6.06–8.30 Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source BRCA1 BayesDel gene-specific calibration Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Table 2, BRCA1, BayesDel ≥0.28, likelihood_ratio
Configuration: BayesDel with ENIGMA BRCA gene-specific score categories	Protocol: BRCA1 BayesDel evidence calibration Dataset: BRCA1 functional reference calibration set	377 high_pathogenic_count count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source BRCA1 BayesDel gene-specific calibration Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Table 2, BRCA1, BayesDel ≥0.28, pathogenic_count
Configuration: BayesDel with ENIGMA BRCA gene-specific score categories	Protocol: BRCA1 BayesDel evidence calibration Dataset: BRCA1 functional reference calibration set	83% high_pathogenic_fraction percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source BRCA1 BayesDel gene-specific calibration Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Table 2, BRCA1, BayesDel ≥0.28, pathogenic_fraction
Configuration: BayesDel with ENIGMA BRCA gene-specific score categories	Protocol: BRCA1 BayesDel evidence calibration Dataset: BRCA1 functional reference calibration set	946 low_benign_count count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source BRCA1 BayesDel gene-specific calibration Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Table 2, BRCA1, BayesDel ≤0.15, benign_count
Configuration: BayesDel with ENIGMA BRCA gene-specific score categories	Protocol: BRCA1 BayesDel evidence calibration Dataset: BRCA1 functional reference calibration set	74% low_benign_fraction percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source BRCA1 BayesDel gene-specific calibration Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Table 2, BRCA1, BayesDel ≤0.15, benign_fraction
Configuration: BayesDel with ENIGMA BRCA gene-specific score categories	Protocol: BRCA1 BayesDel evidence calibration Dataset: BRCA1 functional reference calibration set	0.1 low_likelihood_ratio likelihood ratio · unknown Uncertainty: type: confidence_interval; level: 0.95; lower: 0.07; upper: 0.14; printed: 0.07–0.14 Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source BRCA1 BayesDel gene-specific calibration Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Table 2, BRCA1, BayesDel ≤0.15, likelihood_ratio
Configuration: BayesDel with ENIGMA BRCA gene-specific score categories	Protocol: BRCA1 BayesDel evidence calibration Dataset: BRCA1 functional reference calibration set	34 low_pathogenic_count count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source BRCA1 BayesDel gene-specific calibration Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Table 2, BRCA1, BayesDel ≤0.15, pathogenic_count
Configuration: BayesDel with ENIGMA BRCA gene-specific score categories	Protocol: BRCA1 BayesDel evidence calibration Dataset: BRCA1 functional reference calibration set	7% low_pathogenic_fraction percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source BRCA1 BayesDel gene-specific calibration Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Table 2, BRCA1, BayesDel ≤0.15, pathogenic_fraction
Configuration: BayesDel with ENIGMA BRCA gene-specific score categories	Protocol: BRCA1 BayesDel evidence calibration Dataset: BRCA1 functional reference calibration set	183 middle_benign_count count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source BRCA1 BayesDel gene-specific calibration Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Table 2, BRCA1, BayesDel >0.15 and <0.28, benign_count
Configuration: BayesDel with ENIGMA BRCA gene-specific score categories	Protocol: BRCA1 BayesDel evidence calibration Dataset: BRCA1 functional reference calibration set	14% middle_benign_fraction percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source BRCA1 BayesDel gene-specific calibration Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Table 2, BRCA1, BayesDel >0.15 and <0.28, benign_fraction
Configuration: BayesDel with ENIGMA BRCA gene-specific score categories	Protocol: BRCA1 BayesDel evidence calibration Dataset: BRCA1 functional reference calibration set	0.69 middle_likelihood_ratio likelihood ratio · unknown Uncertainty: type: confidence_interval; level: 0.95; lower: 0.51; upper: 0.94; printed: 0.51–0.94 Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source BRCA1 BayesDel gene-specific calibration Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Table 2, BRCA1, BayesDel >0.15 and <0.28, likelihood_ratio
Configuration: BayesDel with ENIGMA BRCA gene-specific score categories	Protocol: BRCA1 BayesDel evidence calibration Dataset: BRCA1 functional reference calibration set	45 middle_pathogenic_count count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source BRCA1 BayesDel gene-specific calibration Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Table 2, BRCA1, BayesDel >0.15 and <0.28, pathogenic_count
Configuration: BayesDel with ENIGMA BRCA gene-specific score categories	Protocol: BRCA1 BayesDel evidence calibration Dataset: BRCA1 functional reference calibration set	10% middle_pathogenic_fraction percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source BRCA1 BayesDel gene-specific calibration Not reported Aggregation: Not reported Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Table 2, BRCA1, BayesDel >0.15 and <0.28, pathogenic_fraction

Source checking is not independent reproduction. Release 2026-09-30-e37e3ab1284d.

Evaluation procedure

Not reported

Configuration: BayesDel with ENIGMA BRCA gene-specific score categories
Protocol: BRCA1 BayesDel evidence calibration
Dataset: BRCA1 functional reference calibration set

origin: Author-reported evaluation
configuration: Not reported
protocol id: uc-clinical-20260930-enigma-brca1-protocol
dataset version: Not reported
split: Not reported
population: BRCA1 functional reference calibration set
inputs: Not reported
adaptation: Not reported
metric implementation: Source-defined endpoint; see result source_locator
aggregation: Not reported
budget: Not reported

Metadata review: source checked. Unreported conditions prevent automatic comparisons.

Reproduction

Split: Not reported
Adaptation: Not reported
Scoring implementation: Source-defined endpoint; see result source_locator

No execution recipe has been verified for this exact configuration and evaluation. A benchmark's general instructions may use different inputs, splits or model settings.

Access requirements and official instructions: BRCA1 BayesDel evidence calibration

Reproducing this published result requires matching its model configuration, data, split and scorer. Source checking or a successful smoke test does not establish score reproduction.

Evidence

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Evidence table

Inspect claims, sources and review details

Trace each statement to its source and review. A context-only reference supports the record generally; it does not verify an individual field. Source checking does not reproduce an experiment.

One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.

17 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-09-30-e37e3ab1284d
Property and statement	Original source and location	Review and provenance
attributes.comparison.adaptation Not reported Context-only references	Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel Original source ↗ Table 2, BRCA1 Version: 2024 final article; reported VCEP specifications v1.0 Retrieved: 2026-09-30T21:24:15Z	missing or unspecified No individual claim review recorded author reported Audit details Field: `attributes.comparison.adaptation` Source artifact SHA-256: `21e7b0792e18a1295b7bccb8b19ebe4432a2b047187139407c8616ea0cd531f2` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.aggregation Not reported Context-only references	Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel Original source ↗ Table 2, BRCA1 Version: 2024 final article; reported VCEP specifications v1.0 Retrieved: 2026-09-30T21:24:15Z	missing or unspecified No individual claim review recorded author reported Audit details Field: `attributes.comparison.aggregation` Source artifact SHA-256: `21e7b0792e18a1295b7bccb8b19ebe4432a2b047187139407c8616ea0cd531f2` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.budget Not reported Context-only references	Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel Original source ↗ Table 2, BRCA1 Version: 2024 final article; reported VCEP specifications v1.0 Retrieved: 2026-09-30T21:24:15Z	missing or unspecified No individual claim review recorded author reported Audit details Field: `attributes.comparison.budget` Source artifact SHA-256: `21e7b0792e18a1295b7bccb8b19ebe4432a2b047187139407c8616ea0cd531f2` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.dataset_version Not reported Context-only references	Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel Original source ↗ Table 2, BRCA1 Version: 2024 final article; reported VCEP specifications v1.0 Retrieved: 2026-09-30T21:24:15Z	missing or unspecified No individual claim review recorded author reported Audit details Field: `attributes.comparison.dataset_version` Source artifact SHA-256: `21e7b0792e18a1295b7bccb8b19ebe4432a2b047187139407c8616ea0cd531f2` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.inputs Not reported Context-only references	Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel Original source ↗ Table 2, BRCA1 Version: 2024 final article; reported VCEP specifications v1.0 Retrieved: 2026-09-30T21:24:15Z	missing or unspecified No individual claim review recorded author reported Audit details Field: `attributes.comparison.inputs` Source artifact SHA-256: `21e7b0792e18a1295b7bccb8b19ebe4432a2b047187139407c8616ea0cd531f2` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.metric_implementation Source-defined endpoint; see result source_locator Context-only references	Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel Original source ↗ Table 2, BRCA1 Version: 2024 final article; reported VCEP specifications v1.0 Retrieved: 2026-09-30T21:24:15Z	not individually reviewed No individual claim review recorded author reported Audit details Field: `attributes.comparison.metric_implementation` Source artifact SHA-256: `21e7b0792e18a1295b7bccb8b19ebe4432a2b047187139407c8616ea0cd531f2` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.population BRCA1 functional reference calibration set Context-only references	Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel Original source ↗ Table 2, BRCA1 Version: 2024 final article; reported VCEP specifications v1.0 Retrieved: 2026-09-30T21:24:15Z	not individually reviewed No individual claim review recorded author reported Audit details Field: `attributes.comparison.population` Source artifact SHA-256: `21e7b0792e18a1295b7bccb8b19ebe4432a2b047187139407c8616ea0cd531f2` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.protocol_id uc-clinical-20260930-enigma-brca1-protocol Context-only references	Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel Original source ↗ Table 2, BRCA1 Version: 2024 final article; reported VCEP specifications v1.0 Retrieved: 2026-09-30T21:24:15Z	not individually reviewed No individual claim review recorded author reported Audit details Field: `attributes.comparison.protocol_id` Source artifact SHA-256: `21e7b0792e18a1295b7bccb8b19ebe4432a2b047187139407c8616ea0cd531f2` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.split Not reported Context-only references	Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel Original source ↗ Table 2, BRCA1 Version: 2024 final article; reported VCEP specifications v1.0 Retrieved: 2026-09-30T21:24:15Z	missing or unspecified No individual claim review recorded author reported Audit details Field: `attributes.comparison.split` Source artifact SHA-256: `21e7b0792e18a1295b7bccb8b19ebe4432a2b047187139407c8616ea0cd531f2` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.origin author_reported Context-only references	Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel Original source ↗ Table 2, BRCA1 Version: 2024 final article; reported VCEP specifications v1.0 Retrieved: 2026-09-30T21:24:15Z	not individually reviewed No individual claim review recorded author reported Audit details Field: `attributes.origin` Source artifact SHA-256: `21e7b0792e18a1295b7bccb8b19ebe4432a2b047187139407c8616ea0cd531f2` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact

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Sources and history

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Release 2026-09-30-e37e3ab1284d · Record review: source checked

1 source records and release history

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Original source · 2024 final article; reported VCEP specifications v1.0

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Technical metadata and extraction receipts

Stable ID: uc-clinical-20260930-enigma-brca1-evaluation

areas: dna-genomes
contexts: clinical_research
origin: author_reported
source locator: Table 2, BRCA1
published score reproduction: false
review: method: automated_source_review; reviewer: Codex clinical coverage worker; date: 2026-09-30; note: Transcription from inspected primary source. No execution, independent replication or human scientific review.; source id: uc-clinical-20260930-source-enigma
comparison: protocol id: uc-clinical-20260930-enigma-brca1-protocol; dataset version: Not reported; split: Not reported; population: BRCA1 functional reference calibration set; inputs: Not reported; adaptation: Not reported; metric implementation: Source-defined endpoint; see result source_locator; aggregation: Not reported; budget: Not reported

Related records

protocol: BRCA1 BayesDel evidence calibration
configuration: BayesDel with ENIGMA BRCA gene-specific score categories
dataset: BRCA1 functional reference calibration set
evaluation: BRCA1 BayesDel gene-specific calibration: high_benign_count
evaluation: BRCA1 BayesDel gene-specific calibration: high_benign_fraction
evaluation: BRCA1 BayesDel gene-specific calibration: high_likelihood_ratio
evaluation: BRCA1 BayesDel gene-specific calibration: high_pathogenic_count
evaluation: BRCA1 BayesDel gene-specific calibration: high_pathogenic_fraction
evaluation: BRCA1 BayesDel gene-specific calibration: low_benign_count
evaluation: BRCA1 BayesDel gene-specific calibration: low_benign_fraction
evaluation: BRCA1 BayesDel gene-specific calibration: low_likelihood_ratio
evaluation: BRCA1 BayesDel gene-specific calibration: low_pathogenic_count
evaluation: BRCA1 BayesDel gene-specific calibration: low_pathogenic_fraction
evaluation: BRCA1 BayesDel gene-specific calibration: middle_benign_count
evaluation: BRCA1 BayesDel gene-specific calibration: middle_benign_fraction
evaluation: BRCA1 BayesDel gene-specific calibration: middle_likelihood_ratio
evaluation: BRCA1 BayesDel gene-specific calibration: middle_pathogenic_count
evaluation: BRCA1 BayesDel gene-specific calibration: middle_pathogenic_fraction

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