ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.172C>T (p.Gln58Ter)

dbSNP: rs886039802
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
Baylor Genetics RCV003463722 SCV004214120 pathogenic Bardet-Biedl syndrome 4 2022-06-11 criteria provided, single submitter clinical testing
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000256420 SCV000322782 pathogenic Bardet-Biedl syndrome no assertion criteria provided research

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.