ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3084G>A (p.Ala1028=)

gnomAD frequency: 0.00003  dbSNP: rs764100695
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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 RCV001453343 SCV001657032 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2022-09-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004361 SCV004824223 likely benign Malignant hyperthermia, susceptibility to, 5 2023-09-17 criteria provided, single submitter clinical testing

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