ClinVar Miner

Submissions for variant NM_007325.5(GRIA3):c.1125T>C (p.Tyr375=)

dbSNP: rs562407134
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318104 SCV000849789 benign Inborn genetic diseases 2017-05-30 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000915624 SCV001060839 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000915624 SCV001839693 benign not provided 2020-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493279 SCV002798447 likely benign Syndromic X-linked intellectual disability 94 2021-09-01 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.