ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.184dup (p.Leu62fs)

dbSNP: rs1281259093
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 RCV003465059 SCV004214050 likely pathogenic Bardet-Biedl syndrome 2 2023-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021987 SCV005646163 likely pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-01-24 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.