ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11928G>A (p.Thr3976=) (rs55961436)

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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041708 SCV000065404 benign not specified 2010-07-02 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory; Baylor College of Medicine RCV000119822 SCV000154748 unknown Usher syndrome, type 2A criteria provided, single submitter not provided Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041708 SCV000231871 benign not specified 2014-11-04 criteria provided, single submitter clinical testing
GeneDx RCV000041708 SCV000515236 benign not specified 2015-04-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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.