rewire.itbenchmarks
Dataset

ENIGMA 40-variant pilot

Selected BRCA1/BRCA2 variants covering molecular classes and existing ClinVar disagreements.

Research readiness

These checks assess whether the evidence supports a reproducible investigation. A source-checked score alone does not meet these requirements.

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

Evidence incomplete

Replay metrics

Exact outcomes, predictions, identifiers and evaluator are connected.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • artifact hashes: verification is missing
  • join integrity: verification is missing
  • score semantics: verification is missing
  • metric replay: verification is missing

Verified: Not verified

Evidence incomplete

Investigate discrepancies

Replay evidence includes annotations and an assessment of dependence. Unknown independence permits descriptive analysis only.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • artifact hashes: verification is missing
  • join integrity: verification is missing
  • score semantics: verification is missing
  • metric replay: verification is missing
  • annotations: verification is missing
  • dependence: verification is missing

Verified: Not verified

Evidence incomplete

Run locally

A pinned recipe describes the inputs, environment and resource requirements.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • artifact hashes: verification is missing
  • join integrity: verification is missing
  • score semantics: verification is missing
  • recipe pinned: verification is missing
  • resource estimate: verification is missing

Verified: Not verified

Evidence incomplete

Validate independently

Separate data and exposure records support an independent test.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • artifact hashes: verification is missing
  • join integrity: verification is missing
  • score semantics: verification is missing
  • independent validation: verification is missing
  • overlap checked: verification is missing

Verified: Not verified

Readiness describes the evidence in this release. Availability on your computer is checked separately when an investigation runs. Existing data exposure can prevent independent validation even when files are available.

Artifacts and reproduction

No verified artifact manifest is connected to this record yet. The gaps above identify what is needed before analysis can begin.

Read reviewed discrepancy investigations

Evaluation results

1 evaluation · 5 results. Different protocols are not a single leaderboard.

Filter evaluations

Applied filters: All linked evaluations

Exact evaluated configurations and original reported results
Tested configurationProtocol and datasetFindingEvidence and details
Configuration: ClinGen ENIGMA v1.0 manual criteria-based curationProtocol: ENIGMA specification pilot resolution
Dataset: ENIGMA 40-variant pilot
32 first_phase_confidence_band
count · unknown

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

ENIGMA manual specification pilot

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, Pilot curation, first-phase-confidence-band
Configuration: ClinGen ENIGMA v1.0 manual criteria-based curationProtocol: ENIGMA specification pilot resolution
Dataset: ENIGMA 40-variant pilot
3 lb_b_resolved_to_b
count · unknown

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

ENIGMA manual specification pilot

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, Pilot curation, lb-b-resolved-to-b
Configuration: ClinGen ENIGMA v1.0 manual criteria-based curationProtocol: ENIGMA specification pilot resolution
Dataset: ENIGMA 40-variant pilot
5 lp_p_resolved_to_p
count · unknown

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

ENIGMA manual specification pilot

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, Pilot curation, lp-p-resolved-to-p
Configuration: ClinGen ENIGMA v1.0 manual criteria-based curationProtocol: ENIGMA specification pilot resolution
Dataset: ENIGMA 40-variant pilot
11 resolved_initial_vus_conflict
count · unknown

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

ENIGMA manual specification pilot

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, Pilot curation, resolved-initial-vus-conflict
Configuration: ClinGen ENIGMA v1.0 manual criteria-based curationProtocol: ENIGMA specification pilot resolution
Dataset: ENIGMA 40-variant pilot
6 second_phase_vus_other_resolved
count · unknown

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

ENIGMA manual specification pilot

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, Pilot curation, second-phase-vus-other-resolved

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

Dataset and evaluation context

A dataset supplies biological observations. The evaluation protocol defines how those observations are split, used and scored.

Evidence

Source checking verifies the cited claim or transcription. It does not establish independent reproduction.

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.

4 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-09-30-e37e3ab1284d
Property and statementOriginal source and locationReview and provenance
attributes.initial_vus_or_conflicting
13
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 ↗

No field-specific location recorded

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

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.initial_vus_or_conflicting

Source artifact SHA-256: 21e7b0792e18a1295b7bccb8b19ebe4432a2b047187139407c8616ea0cd531f2

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

Inspected artifact

attributes.variants
40
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 ↗

No field-specific location recorded

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

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.variants

Source artifact SHA-256: 21e7b0792e18a1295b7bccb8b19ebe4432a2b047187139407c8616ea0cd531f2

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

Inspected artifact

description
Selected BRCA1/BRCA2 variants covering molecular classes and existing ClinVar disagreements.
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 ↗

No field-specific location recorded

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

not individually reviewed

No individual claim review recorded

Audit details

Field: description

Source artifact SHA-256: 21e7b0792e18a1295b7bccb8b19ebe4432a2b047187139407c8616ea0cd531f2

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

Inspected artifact

name
ENIGMA 40-variant pilot
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 ↗

No field-specific location recorded

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

not individually reviewed

No individual claim review recorded

Audit details

Field: name

Source artifact SHA-256: 21e7b0792e18a1295b7bccb8b19ebe4432a2b047187139407c8616ea0cd531f2

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

Inspected artifact

Sources and history

View linked audit checks and correction history

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-enigma-pilot-data

areas
dna-genomes
contexts
clinical_research
variants
40
initial vus or conflicting
13
Related records

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