Submissions for variant NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=)

gnomAD frequency: 0.00083  dbSNP: rs200182626

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000188235	SCV000241843	benign	not specified	2014-08-28	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.
Genetic Services Laboratory, University of Chicago	RCV000188235	SCV000248283	uncertain significance	not specified	2015-04-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088099	SCV000562382	benign	Pitt-Hopkins-like syndrome 2	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317128	SCV000850593	likely benign	Inborn genetic diseases	2017-04-13	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.
Eurofins Ntd Llc (ga)	RCV000727636	SCV000854919	uncertain significance	not provided	2018-04-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727636	SCV004146127	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	NRXN1: BP4