Submissions for variant NM_007327.4(GRIN1):c.1809G>C (p.Leu603=)

gnomAD frequency: 0.00153  dbSNP: rs141249927

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000554649	SCV000651695	benign	Intellectual disability, autosomal dominant 8	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000602220	SCV000730815	benign	not specified	2017-03-13	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.
Ambry Genetics	RCV002315019	SCV000847898	likely benign	Inborn genetic diseases	2016-07-08	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	RCV003437270	SCV004164011	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	GRIN1: BP4, BP7