Submissions for variant NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=)

gnomAD frequency: 0.26553  dbSNP: rs1805482

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000615174	SCV000744080	benign	Intellectual disability, autosomal dominant 6	2017-07-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711873	SCV000842281	benign	not provided	2017-04-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312127	SCV000846314	benign	Inborn genetic diseases	2016-02-22	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	RCV001517088	SCV001725501	benign	Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000711873	SCV001868040	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701602	SCV001933975	benign	Developmental and epileptic encephalopathy, 27	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000615174	SCV001933976	benign	Intellectual disability, autosomal dominant 6	2021-08-10	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000117191	SCV005087494	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 65% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 60. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV000711873	SCV005233658	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000117191	SCV000151355	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	RCV000615174	SCV000733145	benign	Intellectual disability, autosomal dominant 6		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117191	SCV001958816	benign	not specified		no assertion criteria provided	clinical testing