ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.48-2A>C (rs764245266)

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
Counsyl RCV000409451 SCV000486642 likely pathogenic Bardet-Biedl syndrome 1 2016-07-18 criteria provided, single submitter clinical testing
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000409451 SCV000930626 likely pathogenic Bardet-Biedl syndrome 1 criteria provided, single submitter clinical testing Analysis of the exome sequencing data showed a novel homozygous sequence variant in BBS1 gene. This variant is classified as likely pathogenic which shows strong evidence of pathogenicity according to ACMG guidelines (Richards et al., 2015). Sanger sequencing confirmed the variation in proband and parents were heterozygous for the same variation.

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.