ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3591C>T (p.Val1197=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002622645 SCV002978068 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-07-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007516 SCV004825242 likely benign Malignant hyperthermia, susceptibility to, 5 2023-08-15 criteria provided, single submitter clinical testing

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