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: CA024163 133074
VCEP: Malignant Hyperthermia Susceptibility VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000540.3(RYR1):c.14512C>G (p.Leu4838Val) | Likely Pathogenic | malignant hyperthermia, susceptibility to, 1 | 2023-04-06 | 1.1 | - | RYR1 |
View | NM_000540.3(RYR1):c.14512C>G (p.Leu4838Val) | Likely Pathogenic | malignant hyperthermia, susceptibility to, 1 | 2022-07-11 | 1.0 | - | RYR1 |
Showing 1 to 2 of 2 rows