ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.805-20A>G (rs41280892)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224448 SCV000281611 uncertain significance not provided 2016-05-16 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
PreventionGenetics,PreventionGenetics RCV000242904 SCV000314815 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001081960 SCV000636528 benign Bardet-Biedl syndrome 2020-12-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000242904 SCV000705144 benign not specified 2017-01-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000709638 SCV000743750 likely benign Bardet-Biedl syndrome 1 2015-03-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000709638 SCV000745824 benign Bardet-Biedl syndrome 1 2017-04-19 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.