ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1341C>T (p.Asp447=)

gnomAD frequency: 0.00902  dbSNP: rs35025065
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117189 SCV000151353 benign not specified 2014-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000117189 SCV000168773 benign not specified 2014-02-13 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.
Invitae RCV001083729 SCV000562284 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000117189 SCV000613552 benign not specified 2017-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311752 SCV000846907 benign Inborn genetic diseases 2016-02-24 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.
CeGaT Center for Human Genetics Tuebingen RCV000084731 SCV002497206 benign not provided 2024-05-01 criteria provided, single submitter clinical testing GRIN2B: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004529881 SCV004728351 benign GRIN2B-related disorder 2019-05-16 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Psychiatry Genetics Yale University RCV000084731 SCV000116867 not provided not provided no assertion provided not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.