Submissions for variant NM_000834.5(GRIN2B):c.291G>A (p.Val97=)

gnomAD frequency: 0.00014  dbSNP: rs202223470

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000187687	SCV000241284	benign	not specified	2014-07-28	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	RCV000187687	SCV000247535	uncertain significance	not specified	2014-08-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000655331	SCV000777261	likely benign	Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311271	SCV000846943	likely benign	Inborn genetic diseases	2016-06-24	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.
PreventionGenetics, part of Exact Sciences	RCV004734830	SCV005351069	likely benign	GRIN2B-related disorder	2024-09-20	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).