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)