ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1777C>A (p.Arg593=)

dbSNP: rs138541733
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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 RCV000692628 SCV000820460 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2025-01-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999586 SCV004817925 likely benign Malignant hyperthermia, susceptibility to, 5 2023-12-01 criteria provided, single submitter clinical testing

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