Submissions for variant NM_000834.5(GRIN2B):c.3747C>T (p.Gly1249=)

gnomAD frequency: 0.00063  dbSNP: rs138771137

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001721198	SCV000241304	benign	not provided	2019-06-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000467185	SCV000562277	benign	Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27	2024-01-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000187707	SCV000595077	uncertain significance	not specified	2016-02-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314721	SCV000847961	likely benign	Inborn genetic diseases	2016-10-07	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.
Athena Diagnostics	RCV000187707	SCV001880110	benign	not specified	2021-03-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001721198	SCV005075571	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	GRIN2B: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences	RCV004539740	SCV004776159	likely benign	GRIN2B-related disorder	2020-02-04	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).