ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys) (rs141539554)

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 RCV000606705 SCV000731510 benign not specified 2017-02-16 criteria provided, single submitter clinical testing p.Arg2001Cys in exon 30 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.5% (47/8630) of East Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs141539554). In addition, this amino acid position is not highly conse rved in mammals including three mammals (shrew, star-nosed mole, and elephant) w ith a Cysteine (C) at this position.
Invitae RCV000900596 SCV001044922 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000900596 SCV001788480 likely benign not provided 2021-04-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24938718)

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.