ClinVar Miner

Variants studied for Bardet-Biedl syndrome 9

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
37 63 225 47 26 385

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
BBS9 36 63 223 47 25 381
BBS9, LOC129998228 0 0 2 0 1 3
NF1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 14 22 169 37 1 243
Illumina Laboratory Services, Illumina 0 0 55 12 23 90
Baylor Genetics 20 34 1 0 0 55
New York Genome Center 0 3 6 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 3 1 0 0 8
OMIM 8 0 0 0 0 8
Genome-Nilou Lab 0 0 0 0 4 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 0 0 0 3
Mendelics 2 0 0 0 1 3
3billion 0 0 2 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 2
Gharavi Laboratory, Columbia University 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Department Of Medical Genetics, Faculty Of Medicine, Ege University 1 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 1

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