ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5283C>T (p.Ser1761=)

gnomAD frequency: 0.00001  dbSNP: rs766569872
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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 RCV002139789 SCV002445681 likely benign Hyperkalemic periodic paralysis 2024-10-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500229 SCV002806123 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 2022-01-25 criteria provided, single submitter clinical testing

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