ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6711C>A (p.Asp2237Glu) (rs138959688)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041893 SCV000065589 likely benign not specified 2015-05-27 criteria provided, single submitter clinical testing p.Asp2237Glu in exon 35 of USH2A: This variant is not expected to have clinical significance because the aspartic acid (Asp) residue at position 2237 is not con served through species, with >10 mammals having a glutamic acid (Glu) at this po sition. It has been identified in 0.2% (16/10406) of African chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs1389 59688).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729028 SCV000856662 uncertain significance not provided 2017-09-20 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.