ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4626C>T (p.Leu1542=)

gnomAD frequency: 0.00005  dbSNP: rs773864470
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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 RCV002108812 SCV002433759 likely benign Familial hyperkalemic periodic paralysis 2020-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508071 SCV002806425 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 2021-11-17 criteria provided, single submitter clinical testing

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