ClinVar Miner

Variants studied for Bardet-Biedl syndrome 10

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
25 67 72 2 12 170

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BBS10 25 67 72 2 12 170

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 7 62 16 0 0 85
Illumina Clinical Services Laboratory,Illumina 3 0 55 2 12 72
OMIM 6 0 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 2 3 0 0 0 5
Genetic Services Laboratory,University of Chicago 3 0 0 0 0 3
Mendelics 2 0 1 0 0 3
Fulgent Genetics,Fulgent Genetics 2 1 0 0 0 3
Department of Medical Genetics, Faculty of Medicine,Ege University 3 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1

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.