Submissions for variant NM_181332.3(NLGN4X):c.1779C>G (p.Leu593=)

dbSNP: rs3747334

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082035	SCV000113970	benign	not specified	2013-10-16	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000755324	SCV000604544	benign	not provided	2023-11-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311696	SCV000846302	benign	Inborn genetic diseases	2014-12-13	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000755324	SCV001095345	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000755324	SCV001783000	likely benign	not provided	2019-03-26	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000755324	SCV005207923	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000082035	SCV000152084	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.