ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1923T>C (p.Gly641=)

gnomAD frequency: 0.00001  dbSNP: rs543151915
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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 RCV000654691 SCV000776590 benign Familial hyperkalemic periodic paralysis 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485480 SCV002800585 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 2022-01-21 criteria provided, single submitter clinical testing

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