ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3348C>T (p.Thr1116=)

dbSNP: rs2102573526
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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 RCV002215950 SCV002378927 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2021-10-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005324 SCV004836261 likely benign Malignant hyperthermia, susceptibility to, 5 2023-12-13 criteria provided, single submitter clinical testing

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