ClinVar Miner

Variants in gene BBS2

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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
131 154 363 513 56 1 1085

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bardet-Biedl syndrome 116 42 250 480 26 0 904
Bardet-Biedl syndrome 2 38 111 131 21 19 0 281
Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 14 5 56 25 1 0 100
not provided 13 8 22 14 32 1 85
BBS2-related condition 7 2 40 27 0 0 76
Retinal dystrophy 9 7 21 2 4 0 43
not specified 0 0 10 8 14 0 30
Inborn genetic diseases 2 1 22 2 0 0 27
Retinitis pigmentosa 74 5 2 7 1 6 0 21
Retinitis pigmentosa 6 2 2 0 0 0 10
Bardet-Biedl syndrome 1 0 1 0 3 7 0 8
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
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 112 32 247 480 25 0 896
Natera, Inc. 16 3 60 11 11 0 101
Fulgent Genetics, Fulgent Genetics 14 4 56 25 1 0 100
PreventionGenetics, part of Exact Sciences 7 2 40 35 4 0 88
Baylor Genetics 30 50 1 0 0 0 81
Illumina Laboratory Services, Illumina 2 1 52 5 13 0 73
Counsyl 8 29 21 3 0 0 61
GeneDx 5 2 7 0 29 0 43
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 8 6 2 4 0 36
Myriad Genetics, Inc. 2 30 3 0 0 0 35
Dept Of Ophthalmology, Nagoya University 4 3 20 2 4 0 33
Ambry Genetics 2 1 22 2 0 0 27
OMIM 20 0 0 0 0 0 20
Eurofins Ntd Llc (ga) 4 1 5 0 6 0 16
CeGaT Center for Human Genetics Tuebingen 2 1 5 6 2 0 16
Genome-Nilou Lab 0 1 5 1 6 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 6 5 0 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 7 0 11
Blueprint Genetics 5 3 1 0 0 0 9
Clinical Genetics, Academic Medical Center 1 0 1 1 5 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 4 0 0 0 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 1 4 0 6
Genetic Services Laboratory, University of Chicago 0 0 3 1 1 0 5
Department Of Translational Genomics (developmental Genetics Section), 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
New York Genome Center 2 1 2 0 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 1 0 0 0 0 4
Revvity Omics, Revvity 2 1 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 4
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 3 0 1 0 0 0 4
3billion 1 1 2 0 0 0 4
Athena Diagnostics Inc 1 0 0 0 2 0 3
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 2 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 2 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 2 0 0 0 3
Department of Pediatrics, National Cheng-Kung University Hospital 3 0 0 0 0 0 3
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 0 2 0 0 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 1 0 0 0 2
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 2 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 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
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 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
DBGen Ocular Genomics 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 1 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1

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