Individual skill

genomic-variant-interpretation

Reason about germline and somatic variant classification using ACMG/AMP 2015 and AMP/ASCO/CAP frameworks. Use when the user asks to classify a variant, interpret a VCF annotation, resolve a VUS, apply ACMG criteria, weigh ClinVar evidence, evaluate gnomAD allele frequencies, interpret REVEL/CADD/SpliceAI scores, decide whether PVS1 applies, or assess gene-disease validity before reporting. Triggers include "ACMG", "variant classification", "pathogenic", "likely pathogenic", "VUS", "benign", "ClinVar", "gnomAD", "REVEL", "CADD", "SpliceAI", "PVS1", "loss of function", "nonsense variant", "missense interpretation", "splice variant", "filtering allele frequency", "ClinGen", "somatic variant tier".

skills/genomic-variant-interpretation/SKILL.md

Source commit 4603541c396cdd845dbae554800a65132d12bb63

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Yes

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Observed behavior

Instructions only

Last checked

Nov 11, 2026

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