ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1044A>G (p.Gly348=)

gnomAD frequency: 0.00002  dbSNP: rs376276490
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002116810 SCV002386040 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-07-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005359 SCV004829162 likely benign Malignant hyperthermia, susceptibility to, 5 2023-06-26 criteria provided, single submitter clinical testing

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