ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs)

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
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV001199432 SCV001162414 pathogenic Bardet-Biedl syndrome 2020-01-09 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093322 SCV001250246 pathogenic not provided 2017-01-01 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.