Clinical Variant Interpreter
OfficialTurn variants into ACMG-ready clinical insights.
Data & Analytics#AlphaFold#structural analysis#ClinVar#variant interpretation#gnomAD#ACMG#clinical recommendations
Authormims-harvard
Version1.0.0
Installs0
System Documentation
What problem does it solve?
This Skill provides an end-to-end workflow for variant interpretation that integrates population data, ClinVar, ClinGen, OMIM, structural context (via AlphaFold2 and PDB), and literature to produce ACMG-classified results with clear clinical recommendations.
Core Features & Use Cases
- ACMG-guided classification with explicit evidence codes (PVS, PS, PM, PP, BA/BS/BP).
- Integrated data landscape: gnomAD, ClinVar, ClinGen, OMIM, PubMed, and primary literature for robust evidence synthesis.
- Structural analysis for missense variants using AlphaFold2/PDB context to support PM1/PP3 considerations.
- Output includes actionable clinical recommendations and family testing guidance, with limitations and uncertainties.
- Use Case: Interpret a BRCA1 variant to determine pathogenicity and outline risk management steps.
Quick Start
Interpret NM_007294.4:c.5266dupC in BRCA1 to produce an ACMG classification with explicit evidence and clinical recommendations.
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: Clinical Variant Interpreter Download link: https://github.com/mims-harvard/ToolUniverse/archive/main.zip#clinical-variant-interpreter Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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