clingen-clinvar-variants

What problem does it solve?

Automates creation and validation of ClinVar variant panels for sudden cardiac death risk by ensuring entries (gene, ClinVar accession, HGVS notation, protein change, condition, inheritance, and mechanism) are validated and linked to authoritative ClinVar data.

Core Features & Use Cases

• Input validation: enforces ClinVar accession formats (RCV/VCV), HGVS coordinates, and complete mechanism prose that satisfies defined criteria.
• ClinVar integration: queries ClinVar to retrieve hits and validate entries against authoritative data.
• Pydantic-backed data model: ensures schema conformity for downstream validation pipelines and automated reporting.
• Use cases: generate pathogenic-variant panels for research, clinical genomics validation, and workflow testing of ClinVar-based data pipelines.

Quick Start

Populate the sudden-death ClinVar panel by validating each entry and querying ClinVar for accession counts.