ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp)

gnomAD frequency: 0.00016  dbSNP: rs138541733
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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 RCV000699806 SCV000828533 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-12-17 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262360 SCV001440194 uncertain significance Hypokalemic periodic paralysis, type 1 2019-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485714 SCV002786274 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-01-13 criteria provided, single submitter clinical testing

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