ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1818C>T (p.Ser606=)

gnomAD frequency: 0.00011  dbSNP: rs34025878
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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 RCV002203301 SCV002489369 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-02-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005513 SCV004824040 likely benign Malignant hyperthermia, susceptibility to, 5 2023-12-01 criteria provided, single submitter clinical testing

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