Submissions for variant NM_007327.4(GRIN1):c.1513C>T (p.Leu505=)

gnomAD frequency: 0.00051  dbSNP: rs139637382

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001311044	SCV000521963	benign	not provided	2021-10-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000460308	SCV000554328	benign	Intellectual disability, autosomal dominant 8	2025-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313066	SCV000849303	likely benign	Inborn genetic diseases	2015-12-31	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.
CeGaT Center for Human Genetics Tuebingen	RCV001311044	SCV001501070	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	GRIN1: BP4, BP7
Genetic Services Laboratory, University of Chicago	RCV001821173	SCV002072283	benign	not specified	2017-11-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001311044	SCV005228754	likely benign	not provided		criteria provided, single submitter	not provided