ClinVar Miner

Variants studied for Bardet-Biedl syndrome 10

Included ClinVar conditions (1):
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
24 62 18 0 1 97

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
BBS10 24 62 18 1 97

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance benign total
Counsyl 8 58 16 0 82
OMIM 6 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 3 2 0 0 5
Illumina Clinical Services Laboratory,Illumina 3 0 1 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 3
Fulgent Genetics 2 1 0 0 3
Department of Medical Genetics, Faculty of Medicine,Ege University 3 0 0 0 3
Baylor Miraca Genetics Laboratories, 1 0 1 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 0 2
Athena Diagnostics Inc 0 0 0 1 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 1
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 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.