ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1233-15T>C

gnomAD frequency: 0.00001  dbSNP: rs376591072
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002119971 SCV002403461 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-12-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005386 SCV004820340 likely benign Malignant hyperthermia, susceptibility to, 5 2024-01-11 criteria provided, single submitter clinical testing

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