ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1350C>T (p.Ala450=)

dbSNP: rs1558075481
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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 RCV001427440 SCV001630118 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2022-11-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006968 SCV004816691 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-03 criteria provided, single submitter clinical testing

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