query-clinvar
CommunityRapid ClinVar pathogenicity lookups
AuthorRunchuan-BU
Version1.0.0
Installs0
System Documentation
What problem does it solve?
Quickly determine the reported clinical significance of genetic variants by querying the NCBI ClinVar database, saving time compared with manual literature and database searches.
Core Features & Use Cases
- ClinVar search and retrieval: Perform targeted searches by gene, rsID, disease term, or genomic region to locate ClinVar records.
- Structured summaries: Extract and summarize clinical_significance, variant titles, and gene annotations for reporting or triage.
- Use Case: A clinician or researcher can identify known pathogenic BRCA1 variants and obtain concise ClinVar evidence to inform variant interpretation.
Quick Start
Use the query-clinvar skill to look up the clinical significance and summary details for BRCA1 c.68_69delAG (rs80357914).
Dependency Matrix
Required Modules
None requiredComponents
Standard package💻 Claude Code Installation
Recommended: Let Claude install automatically. Simply copy and paste the text below to Claude Code.
Please help me install this Skill: Name: query-clinvar Download link: https://github.com/Runchuan-BU/BioClaw/archive/main.zip#query-clinvar Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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