ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.744G>A (p.Thr248=)

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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 RCV003783294 SCV004568587 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005944 SCV004833622 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-28 criteria provided, single submitter clinical testing

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