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Diagnosis Safe Moderate Evidence
ClinGen search gene validity
by Harvard MIMS Lab (ToolUniverse)
Description
Search ClinGen gene-disease validity curations by gene symbol. Returns classification (Definitive, Strong, Moderate, Limited, Disputed, Refuted), disease associations, and inheritance patterns. Essential for ACMG variant classification. Example: BRCA1 returns validity scores for hereditary breast/ovarian cancer.
Installation
pip install tooluniverseStatus
Published
Reviewer
Automated import
Date Added
2026-03-30
Tags
tooluniverse clingen gene-disease clinical-genetics