ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr)

dbSNP: rs2042447540
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
Invitae RCV001211099 SCV001382621 pathogenic Landau-Kleffner syndrome 2021-08-27 criteria provided, single submitter clinical testing
GeneDx RCV001576146 SCV001803275 pathogenic not provided 2019-08-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30544257)
Institute of Human Genetics, University of Leipzig Medical Center RCV001211099 SCV002026456 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research

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.