Submissions for variant NM_181303.2(NLGN3):c.594T>C (p.Gly198=)

gnomAD frequency: 0.00053  dbSNP: rs144247281

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081976	SCV000113911	benign	not specified	2015-04-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081976	SCV000596033	likely benign	not specified	2016-05-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313814	SCV000847558	likely benign	Inborn genetic diseases	2016-01-19	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.
PreventionGenetics, part of Exact Sciences	RCV003964941	SCV004779864	likely benign	NLGN3-related disorder	2019-08-27	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).