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)