ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2275C>T (p.Arg759Cys)

gnomAD frequency: 0.00001  dbSNP: rs777247285
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001202456 SCV001373569 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005005069 SCV005632970 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 2024-02-19 criteria provided, single submitter clinical testing

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