ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val) (rs397518017)

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 RCV000041849 SCV000065545 likely benign not specified 2013-03-11 criteria provided, single submitter clinical testing The Ile1613Val variant in USH2A: This variant is not expected to have clinical s ignificance due to lack of conservation across species, including mammals. This variant is present several species, including mouse. In addition, computational analyses (PolyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein.
Counsyl RCV000673507 SCV000798716 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-03-20 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.