ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.140A>G (p.Glu47Gly)

gnomAD frequency: 0.00008  dbSNP: rs199526748
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187695 SCV000241292 likely benign not provided 2020-09-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27029629, 29124671)
Invitae RCV001083356 SCV000659520 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-11-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818452 SCV002068875 uncertain significance not specified 2018-04-30 criteria provided, single submitter clinical testing

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.