Genomic Variant Interpretation

Classify genomic variant pathogenicity using ClinVar and gnomAD data.

9|2|Updated Mar 3, 2026

Search Tags:#genomics #data-integration #pharmacogenomics #variant-interpretation #clinvar #gnomad #clinical-significance

Ready to run

npx skills add https://github.com/gitjfmd/open-medical-skills --skill genomic-variant-interpretation

💬 Prompt for ChatGPT / Claude Chat▼

Please help me install this Agent Skill.
Skill: Genomic Variant Interpretation
Source: https://github.com/gitjfmd/open-medical-skills/tree/main/skills/genomics-variant-interpreter
Command: npx skills add https://github.com/gitjfmd/open-medical-skills --skill genomic-variant-interpretation

SYSTEM DOCUMENTATION & REQUIREMENTS

What problem does it solve?

Classify pathogenicity and clinical significance for genomic variants by aggregating ClinVar, gnomAD, and related data sources to provide standardized interpretations for individuals and gene panels.

Core Features & Use Cases

Aggregates ClinVar, gnomAD, and literature to classify pathogenicity and interpret clinical relevance for single variants and small panels.
Generates evidence-backed annotations suitable for diagnostic reporting and research workflows.
Use Case: In a genetic testing workflow, interpret a newly identified variant to determine pathogenicity and inform clinical decisions.

Quick Start

Provide a variant identifier (e.g., rsID or ACMG-annotated variant) to receive a pathogenicity classification with clinical significance.

Frequently Asked Questions about Genomic Variant Interpretation

High-intent search queries and answers about installing and using this skill.

FAQPage Schema

How do I classify the pathogenicity of a genomic variant using ClinVar and gnomAD?▼

Classify genomic variant pathogenicity by aggregating ClinVar, gnomAD, and related data sources to provide standardized clinical significance interpretations for individuals and gene panels.

What's the best way to interpret clinical significance for a gene panel in a diagnostic pipeline?▼

Interpret clinical significance for gene panels by aggregating ClinVar, gnomAD, and literature data to generate evidence-backed annotations suitable for diagnostic reporting and research workflows.

Can I use a variant rsID to get an ACMG pathogenicity classification?▼

Provide a variant identifier like an rsID or ACMG-annotated variant to receive a standardized pathogenicity classification with clinical significance directly.

Does this variant interpretation approach support pharmacogenomics workflows?▼

Variant interpretation supports pharmacogenomics workflows by classifying pathogenicity and clinical significance for single variants and small panels using standardized nomenclature.

How do I generate evidence-backed annotations for clinical genetic testing reports?▼

Generate evidence-backed annotations for clinical genetic testing by interpreting newly identified variants to determine pathogenicity and inform clinical decisions with standardized nomenclature.

Are there limitations when integrating standardized variant annotations into clinical data systems?▼

Integration with clinical data systems requires standardized nomenclature to support reproducible variant annotation pipelines, handling single variants and gene panels for diagnostic labs and research.