Triage a patient's gene variant for clinical relevance
When to use: A VCF annotation returned a variant you've never seen — is it actionable?
Prerequisites
- biomcp installed — curl -fsSL https://biomcp.org/install.sh | bash
Flow
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Look up the variantLook up BRCA2 c.7934del. ClinVar significance, gnomAD frequency, and any CIViC evidence.✓ Copied→ Consolidated card from multiple sources
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Pull supporting papersFind the 3 most cited PubMed articles on this variant.✓ Copied→ Paper list with PMIDs
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Check for trialsAny open clinical trials recruiting for BRCA2 mutation carriers?✓ Copied→ Trial list from ClinicalTrials.gov
Outcome: A multi-source picture of a variant with evidence pointers.
Pitfalls
- Not a substitute for clinical review — Always have a qualified clinician review — this is research aid, not diagnosis
- Some sources disagree on variant classification — Surface disagreements explicitly; don't average them