--- name: acmg-variant-classifier description: ACMG/AMP variant classification skill for systematic pathogenicity assessment allowed-tools: - Read - Write - Glob - Grep - Edit - WebFetch - WebSearch - Bash metadata: version: "1.0" category: bioinformatics tags: - variant-analysis - acmg - clinical - pathogenicity --- # ACMG Variant Classifier Skill ## Purpose Enable ACMG/AMP variant classification for systematic pathogenicity assessment following clinical guidelines. ## Capabilities - Automated evidence criteria application - Population frequency filtering - In silico prediction integration - Literature evidence curation - Inheritance pattern analysis - Classification report generation ## Usage Guidelines - Apply ACMG criteria systematically - Document evidence for each criterion - Consider inheritance patterns in assessment - Review literature for supporting evidence - Generate clear classification reports - Track classification changes over time ## Dependencies - InterVar - VarSome API - ClinVar ## Process Integration - Clinical Variant Interpretation (clinical-variant-interpretation) - Rare Disease Diagnostic Pipeline (rare-disease-diagnostics) - Newborn Screening Genomics (newborn-screening-genomics)