ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5496G>A (p.Val1832=)

gnomAD frequency: 0.00006  dbSNP: rs146585940
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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 RCV000155328 SCV000205014 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Val1832Val in Exon 27 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 2/7020 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs146585940).
Invitae RCV000941030 SCV001086906 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000941030 SCV001822514 likely benign not provided 2019-07-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453172 SCV004181800 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453171 SCV004181801 likely 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.