ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4008G>A (p.Lys1336=)

gnomAD frequency: 0.00002  dbSNP: rs374426148
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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 RCV001399729 SCV001601526 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-12-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006887 SCV004819668 likely benign Malignant hyperthermia, susceptibility to, 5 2023-08-28 criteria provided, single submitter clinical testing

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