ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.46T>A (p.Cys16Ser)

dbSNP: rs773541890
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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 RCV000695117 SCV000823597 likely benign Familial hyperkalemic periodic paralysis 2023-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493197 SCV002782700 uncertain significance Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Familial hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 2022-04-28 criteria provided, single submitter clinical testing

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