ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4566C>T (p.Phe1522=)

gnomAD frequency: 0.00004  dbSNP: rs538968877
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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 RCV001479528 SCV001683827 likely benign Familial hyperkalemic periodic paralysis 2018-10-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479135 SCV002799356 likely benign 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 2022-04-14 criteria provided, single submitter clinical testing

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