ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3831C>T (p.Leu1277=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004013692 SCV004825207 likely benign Malignant hyperthermia, susceptibility to, 5 2023-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005209660 SCV005849942 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-02-20 criteria provided, single submitter clinical testing

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