ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr)

gnomAD frequency: 0.00001  dbSNP: rs200366112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546815 SCV000653695 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-02-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506366 SCV002797696 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-05-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003487272 SCV003828847 uncertain significance not provided 2022-06-22 criteria provided, single submitter clinical testing

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