ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3525C>T (p.Ser1175=)

gnomAD frequency: 0.00002  dbSNP: rs750868036
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001593473 SCV001816487 likely benign not provided 2019-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070429 SCV002329718 likely benign Hyperkalemic periodic paralysis 2024-12-02 criteria provided, single submitter clinical testing

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