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: CA024596 133159
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.6488G>C (p.Arg2163Pro) | Likely Pathogenic | malignant hyperthermia, susceptibility to, 1 | 2023-04-06 | 1.2 | - | RYR1 |
| View | NM_000540.2(RYR1):c.6488G>C (p.Arg2163Pro) | Likely Pathogenic | malignant hyperthermia, susceptibility to, 1 | 2022-03-14 | 1.1 | - | RYR1 |
| View | NM_000540.2(RYR1):c.6488G>C (p.Arg2163Pro) | Likely Pathogenic | malignant hyperthermia, susceptibility to, 1 | 2021-08-26 | 1.0 | - | RYR1 |
Showing 1 to 3 of 3 rows