ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.15G>A (p.Ala5=) (rs34315573)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117190 SCV000168764 benign not specified 2013-10-25 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.
Illumina Clinical Services Laboratory,Illumina RCV000329481 SCV000377135 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000084733 SCV000842280 benign not provided 2017-09-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715377 SCV000846206 benign History of neurodevelopmental disorder 2016-03-24 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084733 SCV000116869 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000117190 SCV000151354 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.

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.