Submissions for variant NM_000834.5(GRIN2B):c.4311C>T (p.Ala1437=)

gnomAD frequency: 0.00009  dbSNP: rs112265127

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000236839	SCV000292581	benign	not specified	2015-05-07	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	RCV000236839	SCV000595070	likely benign	not specified	2017-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317775	SCV000850042	likely benign	Inborn genetic diseases	2016-06-21	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000866000	SCV001007034	likely benign	Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27	2024-11-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003736669	SCV004562627	likely benign	not provided	2023-09-18	criteria provided, single submitter	clinical testing