Benet-Pages BRCA1/BRCA2 VUS reclassification: ACMG/AMP + SVI step (t2)
Reclassification of a fixed 121-variant VUS cohort using the standard ACMG/AMP classification system with current SVI recommendations and newly available annotation data.
Overview
Reclassification of a fixed 121-variant VUS cohort using the standard ACMG/AMP classification system with current SVI recommendations and newly available annotation data.
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
Results are available, but no reviewed comparison panel is linked in this release.
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.
Methods and evaluation design
Procedure, tasks and evaluated configurations
Evaluation design
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Recorded evaluations
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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 Executed but unpublished runs and private review status are not included.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
Proposed control: requires review
Training-set class prior where supervised fitting is permitted
Protocol-specific applicability, permitted inputs, access, split, evaluator and execution requirements need review before implementation or execution.
This is a suggested selection rule, not a validated method or a measured score.
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-t2-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-t2-protocol
- areas
- dna-genomes
- contexts
- clinical_research
- protocol
- Standard ACMG/AMP classification system with current SVI recommendations and new annotation data, applied to the same 121-variant VUS cohort used at t1.
- 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.