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: CA024494 133144
VCEP: Malignant Hyperthermia Susceptibility VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe) | Likely Pathogenic | malignant hyperthermia, susceptibility to, 1 | 2023-05-20 | 1.0 | - | RYR1 |
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