Submissions for variant NM_000834.5(GRIN2B):c.1338A>G (p.Thr446=)

gnomAD frequency: 0.00102  dbSNP: rs141031272

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125325	SCV000168772	benign	not specified	2014-04-09	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000535546	SCV000659519	benign	Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27	2025-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316374	SCV000849815	likely benign	Inborn genetic diseases	2017-05-31	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.