ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter)

dbSNP: rs768126403
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000721946 SCV000777824 pathogenic Waardenburg syndrome type 4A 2018-05-15 no assertion criteria provided research
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV000721946 SCV000902303 likely pathogenic Waardenburg syndrome type 4A 2019-02-26 no assertion criteria provided case-control

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.