ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) (rs775710800)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000995387 SCV001149518 likely pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV001199438 SCV001162421 pathogenic Bardet-Biedl syndrome 2020-01-09 criteria provided, single submitter research
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000449577 SCV000537802 pathogenic Bardet-Biedl syndrome 4 no assertion criteria provided 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.