ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.12046G>A (p.Val4016Met) (rs138803855)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152576 SCV000201833 benign not specified 2014-09-09 criteria provided, single submitter clinical testing Val4016Met in exon 61 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 3.1% (6/186) of African chromosomes by the 1000 Genomes Project (rs138803855). It has also been identified in 0.3% (13/4404) of African American chromosomes by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/), and the valine (Val) residue at position 4 016 is not conserved with squirrel, jerboa, prairie vole, rabbit, and aardvark h aving a methionine (Met).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152576 SCV000339954 benign not specified 2016-04-08 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.