ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.12598T>G (p.Trp4200Gly) (rs114116572)

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 RCV000155321 SCV000205007 likely benign not specified 2014-06-03 criteria provided, single submitter clinical testing Trp4200Gly in exon 63 of USH2A: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, at least 5 mammals (dolphin, killer whale, hedgehog, star-nosed mole, and c ape-golden mole) have a glycine (Gly) at this position despite high nearby amino acid conservation. In addition, it was identified in 0.6% (1/176) of African ch romosomes by the 1000 Genomes Project (; dbSNP rs11411 6572).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724907 SCV000332325 uncertain significance not provided 2016-04-14 criteria provided, single submitter clinical testing
Invitae RCV000724907 SCV001121849 likely benign not provided 2019-02-05 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.