ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11794C>T (p.Leu3932=)

gnomAD frequency: 0.00418  dbSNP: rs111033505
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041703 SCV000065399 benign not specified 2013-11-26 criteria provided, single submitter clinical testing Leu3932Leu in exon 61 of USH2A: This variant is not expected to have clinical s ignificance because it has been identified in 1.3% (58/4406) African American ch romosomes by the Exome Sequencing Project (rs111033505)
Labcorp Genetics (formerly Invitae), Labcorp RCV000955866 SCV001102599 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000955866 SCV001146596 benign not provided 2019-02-11 criteria provided, single submitter clinical testing
GeneDx RCV000955866 SCV001892188 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450754 SCV004182071 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450753 SCV004182072 benign Usher syndrome type 2A 2023-11-04 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.