Submissions for variant NM_000334.4(SCN4A):c.3774+7C>T

gnomAD frequency: 0.00149  dbSNP: rs199659791

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000420549	SCV000526748	likely benign	not specified	2017-08-23	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000654705	SCV000776604	benign	Familial hyperkalemic periodic paralysis	2024-01-16	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002506051	SCV002807621	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	2021-09-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV004584711	SCV005074109	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	SCN4A: BP4
Breakthrough Genomics, Breakthrough Genomics	RCV004584711	SCV005211225	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004539848	SCV004757056	likely benign	SCN4A-related disorder	2019-03-21	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).