ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4956C>T (p.Arg1652=)

dbSNP: rs775497469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001530830 SCV001745733 likely benign not provided 2020-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873762 SCV002299508 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-28 criteria provided, single submitter clinical testing

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