ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1271C>T (p.Pro424Leu)

dbSNP: rs375260513
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
Ambry Genetics RCV000210702 SCV000262890 uncertain significance Inborn genetic diseases 2014-01-07 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Invitae RCV003114372 SCV003789226 likely benign Landau-Kleffner syndrome 2023-10-13 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.