ClinVar Miner

Variants studied for Bardet-Biedl syndrome 2

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 total
38 111 133 21 19 283

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BBS2 38 111 131 21 19 281
F8 0 0 1 0 0 1
TTC21B 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 16 3 60 11 11 101
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
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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 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 Institute Rare Disease Group, Broad Institute 0 1 1 0 0 2
3billion 1 0 1 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
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 1

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