ClinVar Miner

Variants studied for Bardet-Biedl syndrome 1

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
21 35 18 19 47 124

Gene and significance breakdown #

Total genes and gene combinations: 11
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BBS1, ZDHHC24 11 17 13 1 4 44
BBS1 4 17 4 3 2 29
BBS12 0 0 1 2 13 14
BBS9 1 0 0 5 9 11
BBS2 0 0 0 3 7 7
BBS7 0 0 0 1 5 5
BBS10 2 1 0 1 1 4
BBS4 0 0 0 1 3 4
WDPCP 0 0 0 2 3 3
LZTFL1 2 0 0 0 0 2
BBIP1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 5 32 12 2 0 51
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 1 1 9 27 39
Genome Diagnostics Laboratory,University Medical Center Utrecht 3 0 0 3 24 30
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 2 16 19
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 4 13 17
OMIM 6 0 0 0 0 6
Athena Diagnostics Inc 0 0 0 0 5 5
Fulgent Genetics,Fulgent Genetics 2 0 2 0 0 4
GeneReviews 3 0 0 0 0 3
Human Genetics - Radboudumc,Radboudumc 2 0 1 0 0 3
Baylor Genetics 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 1 0 1 0 0 2
Department of Medical Genetics, Faculty of Medicine,Ege University 2 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 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.