ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val)

gnomAD frequency: 0.00001  dbSNP: rs757165791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061466 SCV001226210 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-11-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497445 SCV002809955 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-03-05 criteria provided, single submitter clinical testing

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