Submissions for variant NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=)

gnomAD frequency: 0.00011  dbSNP: rs145662732

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000598096	SCV000704134	uncertain significance	not provided	2016-12-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001078972	SCV000758014	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2023-12-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315889	SCV000847494	likely benign	Inborn genetic diseases	2016-08-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV000598096	SCV001816647	likely benign	not provided	2020-12-07	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002469216	SCV002766149	benign	not specified	2022-11-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004543345	SCV004774347	likely benign	SCN1A-related disorder	2019-07-18	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).