ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.120G>A (p.Leu40=)

gnomAD frequency: 0.00002  dbSNP: rs1420406971
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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 RCV001478540 SCV001682811 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-10-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007142 SCV004824341 likely benign Malignant hyperthermia, susceptibility to, 5 2023-12-18 criteria provided, single submitter clinical testing

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