The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA233621 166790
VCEP: Limb Girdle Muscular Dystrophy VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) | Pathogenic | autosomal recessive limb-girdle muscular dystrophy | 2025-01-09 | 1.0 | ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CAPN3 Version 1.0.0 | CAPN3 |
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