ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4601G>A (p.Arg1534Gln)

gnomAD frequency: 0.00001  dbSNP: rs891244994
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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 RCV001065639 SCV001230607 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2021-08-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000149 SCV004827600 uncertain significance Malignant hyperthermia, susceptibility to, 5 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012521 SCV005635492 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 2024-06-17 criteria provided, single submitter clinical testing

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