ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.4205A>G (p.Lys1402Arg)

gnomAD frequency: 0.00001  dbSNP: rs1349506481
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002094869 SCV002388508 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2022-06-27 criteria provided, single submitter clinical testing
GeneDx RCV003222389 SCV003918516 uncertain significance not provided 2022-10-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.