ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala)

dbSNP: rs1189622818
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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 RCV000796914 SCV000936449 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2022-08-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501055 SCV002786324 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-09-22 criteria provided, single submitter clinical testing

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