ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3594C>T (p.Phe1198=)

gnomAD frequency: 0.00004  dbSNP: rs201346556
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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 RCV000875887 SCV001018370 likely benign Hyperkalemic periodic paralysis 2024-08-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501344 SCV002808987 likely benign Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 2022-04-30 criteria provided, single submitter clinical testing

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