ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9278A>T (p.Tyr3093Phe)

dbSNP: rs397518045
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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 RCV000041945 SCV000065641 likely benign not specified 2010-11-15 criteria provided, single submitter clinical testing Tyr3093Phe in exon 47 of USH2A: This variant has not been reported in the litera ture. It is not highly conserved in mammals and computational analyses (BLOSUM, PolyPhen, SIFT, AlignGVGD) all suggest that the variant will not impact the prot ein. Therefore, this variant is more likely benign.

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.