ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=)

dbSNP: rs200743095
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001207236 SCV001378580 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-11-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497711 SCV002775529 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-04-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413994 SCV004125280 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing CACNA1S: BP4, BP7

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