Clinvar Database
Access ClinVar variant information, including classifications and evidence, directly within Jackspace for streamlined genomic analysis.
Install on your platform
We auto-selected Claude Code based on this skill’s supported platforms.
Run in terminal (recommended)
claude mcp add jackspace-clinvar-database npx -- -y @trustedskills/jackspace-clinvar-database
Or manually add to ~/.claude/settings.json
{
"mcpServers": {
"jackspace-clinvar-database": {
"command": "npx",
"args": [
"-y",
"@trustedskills/jackspace-clinvar-database"
]
}
}
}Requires Claude Code (claude CLI). Run claude --version to verify your install.
About This Skill
What it does
This skill provides access to the ClinVar database, a public archive of reports describing relationships among human genes, genetic variants and phenotypes. It allows you to query this data to retrieve information about specific gene variations, their clinical significance, and associated diseases. The tool can be used for research, diagnostics, or understanding potential health risks related to genetic factors.
When to use it
- Researching Genetic Diseases: Investigate the known variants and clinical implications of a particular disease.
- Variant Interpretation: Determine the clinical significance of a newly identified genetic variant.
- Understanding Family History: Explore whether specific gene variations are present in your family history and their potential impact.
- Supporting Diagnostic Assessments: Aid in interpreting genetic test results for diagnostic purposes.
Key capabilities
- Access to ClinVar data
- Querying by gene name or variant ID
- Retrieval of clinical significance information
- Association with related phenotypes/diseases
Example prompts
- "What is the clinical significance of the BRCA1 c.6879C>T variant?"
- "Show me all variants associated with Alzheimer's disease in ClinVar."
- "Tell me about the phenotype reported for rs1234567."
Tips & gotchas
The accuracy and completeness of the information depend on the data available in the ClinVar database. Be aware that interpretations can change as new research emerges.
Tags
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Security Audits
| Gen Agent Trust Hub | Pass |
| Socket | Pass |
| Snyk | Pass |
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Passed automated security scans.