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Diagnosis Safe Moderate Evidence
ClinGen get variant classifications
by Harvard MIMS Lab (ToolUniverse)
Description
Get variant pathogenicity classifications from ClinGen Evidence Repository. Returns expert-curated variant classifications with supporting evidence. Optional filters by gene or variant. Classifications follow ACMG/AMP guidelines with expert review.
Installation
pip install tooluniverseStatus
Published
Reviewer
Automated import
Date Added
2026-03-30
Tags
tooluniverse clingen gene-disease clinical-genetics