ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.*1G>C (rs113678046)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253811 SCV000315035 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000020939 SCV000393867 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000253811 SCV000862863 benign not specified 2018-08-15 criteria provided, single submitter clinical testing
GeneReviews RCV000020939 SCV000041555 benign Bardet-Biedl syndrome 2009-10-13 no assertion criteria provided curation Converted during submission to Benign.

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.