ClinVar Miner

Variants in gene BBS2

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
65 66 168 115 24 1 373

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bardet-Biedl syndrome 47 20 88 88 16 0 256
Bardet-Biedl syndrome 2 24 45 83 16 18 0 164
not provided 7 3 10 16 4 1 39
not specified 0 0 2 8 8 0 16
Retinal dystrophy 5 4 1 0 0 0 10
Retinitis pigmentosa 6 2 0 0 0 0 8
Retinitis pigmentosa 74 4 2 2 0 0 0 8
Bardet-Biedl syndrome 1 0 0 0 3 7 0 7
Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 4 1 0 0 0 0 5
Bardet-biedl syndrome 2/6, digenic 4 0 0 0 0 0 4
Bardet-biedl syndrome 1/2, digenic 3 0 0 0 0 0 3
Bardet-biedl syndrome 2/4, digenic 2 0 0 0 0 0 2
Autosomal recessive retinitis pigmentosa 1 0 0 0 0 0 1
BBS2-Related Disorders 1 0 0 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 44 13 85 94 14 0 250
Illumina Clinical Services Laboratory,Illumina 2 1 52 5 13 0 73
Counsyl 8 30 24 3 0 0 65
Natera, Inc. 8 1 16 7 9 0 41
Integrated Genetics/Laboratory Corporation of America 13 6 1 2 3 0 25
OMIM 20 0 0 0 0 0 20
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 1 5 0 6 0 16
PreventionGenetics, PreventionGenetics 0 0 0 8 4 0 12
Myriad Women's Health, Inc. 1 10 0 0 0 0 11
Blueprint Genetics 5 3 1 0 0 0 9
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 4 0 6
Fulgent Genetics,Fulgent Genetics 4 1 0 0 0 0 5
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 3 0 1 0 0 5
Sharon lab,Hadassah-Hebrew University Medical Center 3 2 0 0 0 0 5
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 1 0 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 3 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 2 0 0 0 4
Broad Institute Rare Disease Group, Broad Institute 0 2 2 0 0 0 4
Mendelics 2 0 0 0 1 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 0 1 0 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 3 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 1 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 1 0 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 1 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1 0 0 0 0 0 1
GeneDx 1 0 0 0 0 0 1
Ambry Genetics 0 1 0 0 0 0 1
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Department of Medical Genetics, Faculty of Medicine,Ege University 1 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 0 0 0 0 1
Center for Human Disease Modeling,Duke University Medical Center 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Laboratory of Medical Genetics, INSERM 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Faculty of Health Sciences,Beirut Arab University 1 0 0 0 0 0 1

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