ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1411C>T (p.Leu471=)

dbSNP: rs146389514
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001440271 SCV001643177 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-10-10 criteria provided, single submitter clinical testing

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