ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys)

gnomAD frequency: 0.00004  dbSNP: rs532351874
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518320 SCV000612590 uncertain significance not specified 2017-02-20 criteria provided, single submitter clinical testing
Invitae RCV001241845 SCV001414894 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2022-08-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003487271 SCV003828854 uncertain significance not provided 2021-12-30 criteria provided, single submitter clinical testing

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