ClinVar Miner

Variants studied for Bardet-Biedl syndrome 2

Included ClinVar conditions (2):
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 total
52 173 273 46 19 509

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 52 173 270 46 19 506
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
Natera, Inc. 31 45 111 11 11 209
Fulgent Genetics, Fulgent Genetics 24 32 123 26 1 206
Baylor Genetics 33 58 1 0 0 92
Illumina Laboratory Services, Illumina 1 1 48 4 12 66
Counsyl 8 29 21 3 0 61
Myriad Genetics, Inc. 2 30 2 0 0 34
Genome-Nilou Lab 0 1 5 1 6 13
OMIM 9 0 0 0 0 9
New York Genome Center 2 1 3 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 1 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 1 1 0 5
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
Department of Pediatrics, National Cheng-Kung University Hospital 3 0 1 0 0 4
Mendelics 2 0 1 0 1 4
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 0 3 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 3
3billion 1 0 1 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 2
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 0 1 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 2
Athena Diagnostics 0 0 0 0 1 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 1
DBGen Ocular Genomics 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
Department Of Medical Genetics, Faculty Of Medicine, Ege University 1 0 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Eurofins-Biomnis 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 1 0 0 0 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 1 0 0 0 1
Pars Genome Lab 0 0 0 1 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1

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