--- name: clinvar-querier description: ClinVar database query skill for clinical variant interpretation and pathogenicity lookup allowed-tools: - Read - Write - Glob - Grep - Edit - WebFetch - WebSearch - Bash metadata: version: "1.0" category: bioinformatics tags: - clinical-genomics - clinvar - pathogenicity - database --- # ClinVar Querier Skill ## Purpose Enable ClinVar database queries for clinical variant interpretation and pathogenicity lookup. ## Capabilities - Variant significance lookup - Submission history retrieval - Condition association queries - Evidence level assessment - Batch variant queries - VCF annotation integration ## Usage Guidelines - Query variants with standard nomenclature - Review submission history for context - Consider evidence levels in interpretation - Batch query for efficiency - Integrate with VCF annotation - Document ClinVar version dates ## Dependencies - ClinVar API - VarSome API - OMIM ## Process Integration - Clinical Variant Interpretation (clinical-variant-interpretation) - Rare Disease Diagnostic Pipeline (rare-disease-diagnostics) - Tumor Molecular Profiling (tumor-molecular-profiling)