Submissions for variant NM_181332.3(NLGN4X):c.2360C>T (p.Thr787Met)

gnomAD frequency: 0.00016  dbSNP: rs4995611

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193773	SCV000248264	uncertain significance	not specified	2014-10-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000912166	SCV001057260	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444780	SCV002733193	likely benign	Inborn genetic diseases	2017-06-28	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.
Revvity Omics, Revvity	RCV003133171	SCV003815945	uncertain significance	Autism, susceptibility to, X-linked 2	2019-07-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000912166	SCV004032921	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	NLGN4X: BS2