ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1832T>A (p.Leu611Gln)

dbSNP: rs2141312803
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
Institute of Human Genetics, University of Leipzig Medical Center RCV001785400 SCV002026443 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research
GeneDx RCV002463032 SCV002756542 pathogenic not provided 2022-05-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31429998, 27839871, 30544257)

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.