ClinVar Miner

Variants studied for BBS2-related ciliopathy

Included ClinVar conditions (3):
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 total
48 145 222 46 19 428

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BBS2 48 145 219 46 19 425
BBS2, OGFOD1 0 0 1 0 0 1
F8 0 0 1 0 0 1
TTC21B 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 24 32 123 26 1 206
Natera, Inc. 16 3 60 11 11 101
Baylor Genetics 33 58 1 0 0 92
Illumina Laboratory Services, Illumina 1 1 49 4 12 67
Counsyl 8 29 21 3 0 61
Myriad Genetics, Inc. 2 30 3 0 0 35
Genome-Nilou Lab 0 1 5 1 6 13
OMIM 12 0 0 0 0 12
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 2 0 0 6
New York Genome Center 2 1 3 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 4 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 1 3 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 1 1 0 4
3billion, Medical Genetics 1 1 2 0 0 4
Department of Pediatrics, National Cheng-Kung University Hospital 3 0 1 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 3
Mendelics 2 0 0 0 1 3
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 0 3 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 1 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 1 0 0 0 2
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 0 1 0 0 2
Athena Diagnostics 0 0 0 0 1 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 1
Department Of Medical Genetics, Faculty Of Medicine, Ege University 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 1
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Pars Genome Lab 0 0 0 1 0 1
DBGen Ocular Genomics 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 1 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 0 0 0 1

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