ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1801C>A (p.Pro601Thr) (rs727503710)

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 RCV000152546 SCV000201757 uncertain significance not specified 2014-06-24 criteria provided, single submitter clinical testing The Pro601Thr variant in USH1C has not been previously reported in individuals w ith hearing loss. Data from large population studies is insufficient to assess t he frequency of this variant. Computational prediction tools and conservation an alyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Pro601Thr variant is uncertain.
Invitae RCV000915897 SCV001061120 likely benign not provided 2018-09-11 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.