ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.5325T>C (p.Asn1775=)

gnomAD frequency: 0.00004  dbSNP: rs762606454
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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 RCV001454676 SCV001658412 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-06-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003178 SCV004818049 likely benign Malignant hyperthermia, susceptibility to, 5 2023-11-20 criteria provided, single submitter clinical testing

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