ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2479A>C (p.Asn827His) (rs876658114)

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 RCV000215197 SCV000272895 uncertain significance not specified 2016-01-21 criteria provided, single submitter clinical testing The p.Asn827His variant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome, or in large population studies. Computatio nal prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of t he p.Asn827His variant is uncertain.
Counsyl RCV000674556 SCV000799911 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-05-15 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.