ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1752G>A (p.Arg584=)

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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 RCV003795233 SCV004590213 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2022-11-14 criteria provided, single submitter clinical testing

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