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)