Submissions for variant NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu)

gnomAD frequency: 0.00029  dbSNP: rs147956755

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000733887	SCV000241297	benign	not provided	2020-01-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000694944	SCV000823414	likely benign	Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27	2025-01-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000733887	SCV000861990	uncertain significance	not provided	2018-06-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433846	SCV002746076	likely benign	Inborn genetic diseases	2021-09-01	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	RCV000733887	SCV003817465	uncertain significance	not provided	2019-11-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537577	SCV004730001	likely benign	GRIN2B-related disorder	2023-10-13	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).