Systematic ACMG/AMP germline variant classification with all 28 criteria (PVS1, PS1-4, PM1-6, PP1-5, BA1, BS1-4, BP1-7) for clinical significance. Produces 5-tier verdict (Pathogenic / Likely Pathogenic / VUS / Likely Benign / Benign) with cited evidence per criterion. Use for variant interpretation, VUS resolution, and pathogenicity assessment. Combines ClinVar, gnomAD, computational predictors, and gene-mechanism context.
This skill does not declare a tool allowlist. The agent host applies whatever default tools are available at runtime.
SKILL.md / Manifest
https://raw.githubusercontent.com/mims-harvard/tooluniverse/main/plugin/skills/tooluniverse-acmg-variant-classification/SKILL.mdRegistry
github (via claudemarketplaces.com)