ACMG/AMP classification system with SVI recommendations (t2)
Standard ACMG/AMP classification system applied with current Sequence Variant Interpretation (SVI) recommendations and newly available annotation data, re-evaluating the same VUS cohort.
Overview
Standard ACMG/AMP classification system applied with current Sequence Variant Interpretation (SVI) recommendations and newly available annotation data, re-evaluating the same VUS cohort.
Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.
Evaluations and results
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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Evidence
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Evidence table
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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-acmg-svi-config
- areas
- dna-genomes
- contexts
- clinical_research
- 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