Benet-Pages BRCA1/BRCA2 VUS reclassification: ENIGMA VCEP step (t3)
Reclassification of the same fixed 121-variant VUS cohort using the ENIGMA BRCA1/BRCA2 VCEP specification v1.1.0, applied after the ACMG/AMP + SVI step.
Overview
Reclassification of the same fixed 121-variant VUS cohort using the ENIGMA BRCA1/BRCA2 VCEP specification v1.1.0, applied after the ACMG/AMP + SVI step.
Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.
1 recorded evaluation, 2 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.
Results
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All evaluations
1 evaluation · 2 results. Different protocols are not a single leaderboard.
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Source checking is not independent reproduction. Release 2026-10-06-fea06f63ac0e.
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Baseline coverage
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- Author-reported evaluations
- 1
Literature evidence is not a Rewire measurement. Executed but unpublished runs and private review status are not included.
Null control
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Training-set class prior where supervised fitting is permitted
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Conventional reference
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Regularised classifier on simple permitted features, or protocol's conventional reference
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Protocol coverage CSV · Model evaluation matrix · Source table · Release and checksums
Coverage is derived from release 2026-10-06-fea06f63ac0e. Source citations describe the original records; they do not validate an unreviewed baseline proposal. No results have been generated by this audit.
Run instructions
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Strengths, limitations and unresolved questions
Evidence
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Evidence table
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One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.
1 evidence row matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Relationship: part of uc-clinical-20261005-benet-pages-benchmark Individual claims | Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system Results, VUS reclassification sections Version: 2025 published article (Genetics in Medicine Open); ENIGMA BRCA1/BRCA2 VCEP specification v1.1.0 applied | source checked automated source review · 2026-10-05 Audit detailsTranscription from inspected primary source. No execution, independent replication or human scientific review. Field: Claim: uc-clinical-20261005-benet-pages-t3-membership Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
Sources and history
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Release 2026-10-06-fea06f63ac0e · Record review: source checked
1 source records and release history
- Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system · Original source · 2025 published article (Genetics in Medicine Open); ENIGMA BRCA1/BRCA2 VCEP specification v1.1.0 applied
Technical metadata and extraction receipts
Stable ID: uc-clinical-20261005-benet-pages-t3-protocol
- areas
- dna-genomes
- contexts
- clinical_research
- protocol
- ENIGMA BRCA1/BRCA2 VCEP specification v1.1.0 applied to the same 121-variant VUS cohort after the ACMG/AMP + SVI (t2) step.
- review
- method: automated_source_review; reviewer: Claude Sonnet clinical coverage worker (research-evidence intake); date: 2026-10-05; note: Transcription from inspected primary source. No execution, independent replication or human scientific review.; source id: uc-clinical-20261005-source-benet-pages
- limitations
- Reclassification rate across successive criteria-set versions on a fixed cohort, not a tool/method comparison against a baseline reviewer process.; No reviewer time or independent clinical adjudication reported.; Aggregate counts only; the source's gene-split reclassification-rate sentence (BRCA1 85% n=40, BRCA2 83% n=67) cannot be reconciled against its own Methods denominators and is not used here.