ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1243-5C>A

gnomAD frequency: 0.00001  dbSNP: rs374257387
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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 RCV000654697 SCV000776596 likely benign Hyperkalemic periodic paralysis 2023-05-18 criteria provided, single submitter clinical testing

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