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BayesDel generic Pejaver evidence thresholds in ENIGMA comparison

Generic BP4 supporting threshold ≤−0.18 and PP3 supporting threshold ≥0.13, applied to BRCA functional benign reference sets. These are evidence codes, not full pathogenicity classifications.

2 evaluations · 4 results

Overview

Generic BP4 supporting threshold ≤−0.18 and PP3 supporting threshold ≥0.13, applied to BRCA functional benign reference sets. These are evidence codes, not full pathogenicity classifications.

Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.

Evaluations and results

2 evaluations · 4 results. Different protocols are not a single leaderboard.

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Exact evaluated configurations and original reported results
Tested configurationProtocol and datasetFindingEvidence and details
Configuration: BayesDel generic Pejaver evidence thresholds in ENIGMA comparisonProtocol: BRCA1 generic BayesDel threshold evidence-code assignment
Dataset: BRCA1 functional reference calibration set
<10% benign_reference_assigned_bp4
percent · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

BRCA1 generic BayesDel threshold comparator

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 · Results, BayesDel calibration, BP4 code would be assigned to <10% of BRCA1 and BRCA2 benign reference variants
Configuration: BayesDel generic Pejaver evidence thresholds in ENIGMA comparisonProtocol: BRCA1 generic BayesDel threshold evidence-code assignment
Dataset: BRCA1 functional reference calibration set
29% benign_reference_assigned_pp3
percent · lower

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

BRCA1 generic BayesDel threshold comparator

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 · Results, BayesDel calibration, sentence 29% for BRCA1 and 36% for BRCA2 incorrectly assigned PP3
Configuration: BayesDel generic Pejaver evidence thresholds in ENIGMA comparisonProtocol: BRCA2 generic BayesDel threshold evidence-code assignment
Dataset: BRCA2 functional reference calibration set
<10% benign_reference_assigned_bp4
percent · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

BRCA2 generic BayesDel threshold comparator

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 · Results, BayesDel calibration, BP4 code would be assigned to <10% of BRCA1 and BRCA2 benign reference variants
Configuration: BayesDel generic Pejaver evidence thresholds in ENIGMA comparisonProtocol: BRCA2 generic BayesDel threshold evidence-code assignment
Dataset: BRCA2 functional reference calibration set
36% benign_reference_assigned_pp3
percent · lower

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

BRCA2 generic BayesDel threshold comparator

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 · Results, BayesDel calibration, sentence 29% for BRCA1 and 36% for BRCA2 incorrectly assigned PP3

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

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Evidence

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Evidence table

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1 evidence row matching the loaded filters

Claims, original sources and review scope · Release 2026-09-30-e37e3ab1284d
Property and statementOriginal source and locationReview and provenance
Relationship: variant of
uc-clinical-20260930-method-bayesdel
Individual claims
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Original source ↗

Results; Table 2; reference 22

Version: 2024 final article; reported VCEP specifications v1.0
Retrieved: 2026-09-30T21:24:15Z

source checked

automated source review · 2026-09-30

Audit details

Transcription from inspected primary source. No execution, independent replication or human scientific review.

Field: links:variant_of:uc-clinical-20260930-method-bayesdel

Claim: uc-clinical-20260930-association-bayesdel-pejaver-generic

Source artifact SHA-256: 21e7b0792e18a1295b7bccb8b19ebe4432a2b047187139407c8616ea0cd531f2

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Sources and history

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

1 source records and release historyDownload this release
Technical metadata and extraction receipts

Stable ID: uc-clinical-20260930-bayesdel-pejaver-generic

areas
dna-genomes
contexts
clinical_research
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
parent identity review
source id: uc-clinical-20260930-source-enigma; source locator: Results; Table 2; reference 22; method: automated_source_review
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