ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2853+18C>T

gnomAD frequency: 0.00002  dbSNP: rs768391679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001917060 SCV002187612 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-12-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484561 SCV002776988 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-01-10 criteria provided, single submitter clinical testing

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