ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14664G>A (p.Thr4888=) (rs111033525)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041768 SCV000065464 likely benign not specified 2014-12-17 criteria provided, single submitter clinical testing p.Thr4888Thr in exon 67 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction. It has been identified in 0.1% (73/67624) of European ch romosomes by the Exome Aggregation Consortium (; d bSNP rs111033525).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725431 SCV000336889 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing
Invitae RCV000725431 SCV001049825 likely benign not provided 2019-03-05 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.