Submissions for variant NM_000334.4(SCN4A):c.1710C>T (p.Ile570=)

gnomAD frequency: 0.00005  dbSNP: rs760067411

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000440070	SCV000531493	likely benign	not specified	2016-09-01	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics	RCV000440070	SCV001476054	benign	not specified	2019-12-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002059909	SCV002450478	likely benign	Hyperkalemic periodic paralysis	2022-08-09	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002506063	SCV002804779	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	2021-12-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003418131	SCV004138798	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	SCN4A: BP4, BP7