ClinVar Miner

Variants in gene BBS9

Minimum submission review status: Collection method:
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Gene type:
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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
39 9 209 73 48 1 346

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bardet-Biedl syndrome 24 2 132 42 26 0 226
Bardet-Biedl syndrome 9 13 3 57 12 24 0 109
not provided 7 1 22 17 3 0 48
not specified 0 0 4 9 25 0 36
Bardet-Biedl syndrome 1 1 0 0 5 9 0 11
See cases 0 0 4 1 1 0 6
Retinal dystrophy 1 0 2 0 0 0 3
Gestational diabetes mellitus uncontrolled 0 0 0 0 0 1 1
Inborn genetic diseases 0 0 1 0 0 0 1
Intellectual disability 0 1 0 0 0 0 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: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 16 2 130 54 27 0 229
Illumina Clinical Services Laboratory,Illumina 0 0 58 12 23 0 93
PreventionGenetics, 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 4 4 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
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 3 1 0 0 4
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
Blueprint Genetics 1 0 2 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 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
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Ambry Genetics 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 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
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 0 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
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 1 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1

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