ClinVar Miner

Variants studied for Bardet-Biedl syndrome 1

Coded as:
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
60 98 180 43 62 4 399

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BBS1, ZDHHC24 31 49 116 17 15 1 205
BBS1 16 41 59 11 6 0 122
BBS12 3 0 1 2 13 0 17
BBS9 1 0 0 4 9 0 10
BBS10 3 5 0 1 1 0 9
BBS2 0 1 0 3 7 0 8
BBS4 2 1 0 1 3 0 7
BBS7 1 1 0 1 5 0 7
WDPCP 0 0 0 2 3 0 3
BBS5 1 0 1 0 0 0 2
LZTFL1 0 0 0 0 0 2 2
ARL6 1 0 0 0 0 0 1
BBIP1 0 0 0 0 0 1 1
BBS1, DPP3 1 0 0 0 0 0 1
CCDC28B 0 0 0 1 0 0 1
IFT172 0 0 1 0 0 0 1
LOC126862183, SCAPER 0 0 1 0 0 0 1
NPHP1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 10 3 87 9 12 0 121
Fulgent Genetics, Fulgent Genetics 12 4 64 15 0 0 95
Illumina Laboratory Services, Illumina 1 1 54 5 11 0 72
Baylor Genetics 27 37 5 0 0 0 69
Counsyl 4 35 12 2 0 0 53
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 1 8 27 0 38
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 0 0 3 24 0 30
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 9 6 4 0 0 0 19
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 2 16 0 19
Myriad Genetics, Inc. 1 15 2 0 0 0 18
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 4 13 0 17
Genome-Nilou Lab 0 0 2 0 8 0 10
New York Genome Center 1 0 8 0 0 0 9
Revvity Omics, Revvity 2 2 4 0 0 0 8
OMIM 6 0 0 0 0 0 6
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 4 2 0 0 0 6
Athena Diagnostics 0 0 0 0 5 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 2 0 0 0 5
Mendelics 3 0 0 1 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 2 0 1 0 1 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 4
3billion 3 0 1 0 0 0 4
GeneReviews 0 0 0 0 0 3 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 3 0 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 0 0 0 3
Genomics England Pilot Project, Genomics England 2 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Department Of Medical Genetics, Faculty Of Medicine, Ege University 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 0 0 2
Molecular Endocrinology Laboratory, Christian Medical College 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department of Neurology, Kindai University 1 0 0 0 0 0 1
Heon Lab, The Hospital for Sick Children 1 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1

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