ClinVar Miner

Variants studied for Bardet-Biedl syndrome 4

Included ClinVar conditions (1):
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
24 89 135 22 17 271

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BBS4 24 89 135 22 17 271

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 9 27 89 17 1 143
Baylor Genetics 10 60 1 0 0 71
Illumina Laboratory Services, Illumina 0 0 41 4 10 55
Revvity Omics, Revvity 3 4 4 0 0 11
Genome-Nilou Lab 0 0 0 0 7 7
New York Genome Center 0 1 5 0 0 6
OMIM 4 0 0 0 0 4
Molecular Endocrinology Laboratory, Christian Medical College 0 0 3 0 0 3
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 2
Mendelics 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Department Of Medical Genetics, Faculty Of Medicine, Ege University 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
3billion, Medical Genetics 0 0 0 1 0 1
DBGen Ocular Genomics 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 0 1

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