# Clinvar Querier

> ClinVar database query skill for clinical variant interpretation and pathogenicity lookup

- Skill: `a5c-ai/clinvar-querier` (Agent Skill)
- Install (CLI): `npx skillmds@latest add a5c-ai/clinvar-querier`
- Raw SKILL.md: https://api.skillmd.com/api/skills/a5c-ai/clinvar-querier/raw
- Safety review: pending (external: skill-scanner PASS, skillspector PASS)
- Works with: Claude Code, Claude.ai, OpenAI Codex
- Category: Coding & Dev Tools
- Author: a5c-ai (https://skillmd.com/u/a5c-ai)
- Updated: 2026-09-09
- Page: https://skillmd.com/skills/a5c-ai/clinvar-querier

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# 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)