Submissions for variant NM_000834.5(GRIN2B):c.3534C>T (p.His1178=)

gnomAD frequency: 0.39095  dbSNP: rs1806191

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000711874	SCV000842284	benign	not provided	2017-04-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312131	SCV000846164	benign	Inborn genetic diseases	2016-02-09	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV001517087	SCV001725500	benign	Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000711874	SCV001904846	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701508	SCV001933972	benign	Developmental and epileptic encephalopathy, 27	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701754	SCV001933973	benign	Intellectual disability, autosomal dominant 6	2021-08-10	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000117197	SCV005087378	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 78% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 73. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV000711874	SCV005233643	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000117197	SCV000151361	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000117197	SCV001741545	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117197	SCV001953163	benign	not specified		no assertion criteria provided	clinical testing