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: CA024467 133137
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.488G>T (p.Arg163Leu) | Pathogenic | malignant hyperthermia, susceptibility to, 1 | 2023-05-22 | 2.1 | - | RYR1 |
| View | NM_000540.2(RYR1):c.488G>T (p.Arg163Leu) | Pathogenic | malignant hyperthermia, susceptibility to, 1 | 2023-04-07 | 2.0 | - | RYR1 |
| View | NM_000540.2(RYR1):c.488G>T (p.Arg163Leu) | Likely Pathogenic | malignant hyperthermia, susceptibility to, 1 | 2021-03-31 | 1.0 | - | RYR1 |
Showing 1 to 3 of 3 rows