ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln)

gnomAD frequency: 0.00004  dbSNP: rs139945826
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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 RCV001317410 SCV001508069 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2022-09-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493660 SCV002785501 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-03-31 criteria provided, single submitter clinical testing

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