ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1211-1175del (rs1207247951)

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
Counsyl RCV000670807 SCV000795707 pathogenic Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-11-15 criteria provided, single submitter clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003245 SCV001161324 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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.