ClinVar Miner

Variants studied for Bardet-Biedl syndrome 2

Included ClinVar conditions (2):
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
39 117 157 45 19 335

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 39 117 154 45 19 332
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: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 16 3 60 11 11 101
Fulgent Genetics, Fulgent Genetics 14 4 56 25 1 100
Baylor Genetics 30 50 1 0 0 81
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 9 0 0 0 0 9
New York Genome Center 2 1 3 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 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
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 2
3billion 1 0 1 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 1 0 0 0 2
Athena Diagnostics Inc 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
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 1
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 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

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