ClinVar Miner

Variants in gene BBS10

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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 total
77 80 174 84 18 377

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Bardet-Biedl syndrome 59 8 82 73 9 226
Bardet-Biedl syndrome 10 28 67 88 9 13 193
not provided 14 5 17 13 0 48
not specified 0 0 6 9 6 17
Bardet-Biedl syndrome 1 3 2 0 1 1 6
Inborn genetic diseases 3 1 2 0 0 6
Retinal dystrophy 5 1 0 0 0 6
Retinitis pigmentosa 1 1 0 0 0 2
Bardet-biedl syndrome 1/10, digenic 1 0 0 0 0 1
Bardet-biedl syndrome 6/10, digenic 1 0 0 0 0 1
Retinal dystrophy; Macular degeneration; Postaxial hand polydactyly; Intellectual disability; Foot polydactyly; High-frequency hearing impairment 1 0 0 0 0 1
Short-rib thoracic dysplasia 3 with or without polydactyly 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 49 1 75 76 9 210
Counsyl 7 62 16 0 0 85
Illumina Clinical Services Laboratory,Illumina 3 0 62 2 12 79
Natera, Inc. 6 1 17 7 4 35
Integrated Genetics/Laboratory Corporation of America 9 6 3 3 2 23
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 0 12 0 4 22
Laboratory of Medical Genetics, INSERM 11 0 0 0 0 11
Genetic Services Laboratory, University of Chicago 3 0 2 3 2 10
PreventionGenetics, PreventionGenetics 0 0 0 6 4 10
GeneDx 4 3 2 0 0 9
Baylor Genetics 5 1 2 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 5 2 1 0 0 8
OMIM 7 0 0 0 0 7
Ambry Genetics 3 1 2 0 0 6
Blueprint Genetics 5 1 0 0 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 2 0 0 1 1 4
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 3 1 0 0 0 4
Athena Diagnostics Inc 1 0 1 0 1 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 2 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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 3 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 1 0 1 0 3
Molecular Genetics Laboratory,Institute for Ophthalmic Research 2 0 0 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
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Sydney Genome Diagnostics,Children's Hospital Westmead 1 1 0 0 0 2
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 1 0 0 0 0 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 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
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 1 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1

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