ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4362C>G (p.Pro1454=)

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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 RCV003818156 SCV004609754 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-05-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006079 SCV004836091 likely benign Malignant hyperthermia, susceptibility to, 5 2023-11-20 criteria provided, single submitter clinical testing

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