ClinVar Miner

Variants in gene BBS9

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 not provided total
27 6 73 39 33 1 152

Condition and significance breakdown #

Total conditions: 11
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bardet-Biedl syndrome 15 2 48 22 20 0 97
not specified 0 0 4 11 24 0 36
not provided 5 1 18 3 2 0 28
Bardet-Biedl syndrome 9 11 1 1 0 0 0 13
Bardet-Biedl syndrome 1 1 0 0 5 9 0 11
See cases 0 0 4 1 1 0 6
Gestational diabetes mellitus uncontrolled 0 0 0 0 0 1 1
Neurodevelopmental disorder 0 0 1 0 0 0 1
Premature ovarian failure 0 0 1 0 0 0 1
Retinal vascular dystrophy 0 1 0 0 0 0 1
Retinitis pigmentosa 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 34 16 2 0 52
Invitae 7 2 16 6 18 0 49
PreventionGenetics 0 0 0 5 22 0 27
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 11 0 5 0 18
Genetic Services Laboratory, University of Chicago 0 0 2 7 1 0 10
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 1 7 0 9
OMIM 8 0 0 0 0 0 8
GeneDx 1 0 5 1 1 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 2 3 1 0 7
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 4 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 5 0 6
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 4 1 0 0 0 0 4
Laboratory of Medical Genetics, INSERM 4 0 0 0 0 0 4
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 1 1 0 3
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 2 0 0 0 0 2
Lineagen Inc. 2 0 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 0 1
ISCA site 1 0 0 0 1 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
Department of Medical Genetics, Faculty of Medicine,Ege University 1 0 0 0 0 0 1
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 1 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Gharavi Laboratory,Columbia University 0 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.