ClinVar Miner

Variants studied for Bardet-Biedl syndrome 7

Included ClinVar conditions (1):
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
23 49 93 16 10 183

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 23 49 89 16 10 179
BBS7, LOC129993036 0 0 4 0 0 4

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 6 2 38 15 0 61
Baylor Genetics 12 42 3 0 0 57
Illumina Laboratory Services, Illumina 0 0 43 1 10 54
New York Genome Center 0 0 5 0 0 5
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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
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

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