ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2467C>T (p.Arg823Trp)

gnomAD frequency: 0.00009  dbSNP: rs199758244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554629 SCV000653670 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-09-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483487 SCV002786269 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-07-19 criteria provided, single submitter clinical testing

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