ClinVar Miner

Variants studied for BBS1-related ciliopathy

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
75 145 281 47 62 5 556

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BBS1, ZDHHC24 35 76 161 19 15 2 276
BBS1 22 50 93 11 6 0 169
ARL6 4 9 21 2 0 0 35
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
CCDC28B 1 0 1 1 0 0 3
WDPCP 0 0 0 2 3 0 3
BBS5 1 0 1 0 0 0 2
CEP76, PSMG2 0 2 0 0 0 0 2
LZTFL1 0 0 0 0 0 2 2
BBIP1 0 0 0 0 0 1 1
BBS1, DPP3 1 0 0 0 0 0 1
IFT172 0 0 1 0 0 0 1
LOC126862183, SCAPER 0 0 1 0 0 0 1
MKKS 1 0 0 0 0 0 1
NPHP1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 19 40 143 19 0 0 221
Natera, Inc. 23 24 120 9 12 0 188
Illumina Laboratory Services, Illumina 1 0 54 5 11 0 71
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 8 4 0 0 0 21
Myriad Genetics, Inc. 1 18 2 0 0 0 21
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 2 16 0 19
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 4 13 0 17
Revvity Omics, Revvity 5 4 4 0 0 0 13
Genome-Nilou Lab 0 0 2 0 8 0 10
New York Genome Center 1 0 8 0 0 0 9
OMIM 9 0 0 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 1 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 4 1 0 0 0 7
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 4 2 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 3 0 0 0 6
Athena Diagnostics 0 0 0 0 5 0 5
3billion 3 0 1 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 2 0 2 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 4
Mendelics 3 0 0 1 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 2 0 1 0 1 0 4
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 3 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Genomics England Pilot Project, Genomics England 2 1 0 0 0 0 3
Gharavi Laboratory, Columbia University 3 0 0 0 0 0 3
Heon Lab, The Hospital for Sick Children 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Department Of Medical Genetics, Faculty Of Medicine, Ege University 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 2 0 0 0 0 0 2
Molecular Endocrinology Laboratory, Christian Medical College 0 1 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Department of Neurology, Kindai University 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Otogenetics 1 0 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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1

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