ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1719C>T (p.Phe573=)

gnomAD frequency: 0.00004  dbSNP: rs759501199
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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 RCV000868506 SCV001009843 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003019 SCV004832629 likely benign Malignant hyperthermia, susceptibility to, 5 2023-12-13 criteria provided, single submitter clinical testing

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