genomic-variant-interpretation
From the author
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".
Install
npx skills add awslabs/hcls-agent-skills --skill genomic-variant-interpretation -a claude-code
Installs to .claude/skills/genomic-variant-interpretation/ · Each command fetches the skill straight from GitHub with the open skills CLI.
Byte-identical to the scanned commit, with the repository’s licence and a SOURCE.txt.
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