Submissions for variant NM_000834.5(GRIN2B):c.1569C>T (p.Val523=)

gnomAD frequency: 0.00081  dbSNP: rs148573953

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001718626	SCV000527250	benign	not provided	2020-02-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314046	SCV000848778	likely benign	Inborn genetic diseases	2017-01-17	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	RCV000866738	SCV001007873	benign	Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27	2024-01-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004734971	SCV005350600	likely benign	GRIN2B-related disorder	2024-05-23	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).