ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2340C>T (p.Thr780=)

gnomAD frequency: 0.00009  dbSNP: rs375349902
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000654695 SCV001500143 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001416127 SCV001618299 likely benign Hyperkalemic periodic paralysis 2025-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493061 SCV002803774 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 2021-10-05 criteria provided, single submitter clinical testing

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