ClinVar Miner

Variants studied for Bardet-Biedl syndrome 7

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
26 53 100 16 10 197

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BBS7 26 53 96 16 10 193
BBS7, LOC129993036 0 0 4 0 0 4

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 13 46 3 0 0 62
Fulgent Genetics, Fulgent Genetics 6 2 38 15 0 61
Illumina Laboratory Services, Illumina 0 0 43 1 10 54
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 0 7 0 0 7
New York Genome Center 0 0 5 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 0 1 0 0 4
3billion 1 2 1 0 0 4
OMIM 3 0 0 0 0 3
Revvity Omics, Revvity 1 0 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 0 0 0 3
Department of Pediatrics, National Cheng-Kung University Hospital 1 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 2
Molecular Endocrinology Laboratory, Christian Medical College 0 0 2 0 0 2
MVZ Medizinische Genetik Mainz 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 1 0 0 0 0 1
Department Of Medical Genetics, Faculty Of Medicine, Ege University 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
DBGen Ocular Genomics 0 0 1 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 1 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 1

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