ClinVar Miner

Variants studied for BBS9-related ciliopathy

Included ClinVar conditions (2):
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
37 62 226 47 26 386

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 62 224 47 25 382
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
OMIM 8 0 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 2 1 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 0 0 7
Genome-Nilou Lab 0 0 0 0 4 4
Mendelics 2 0 0 0 1 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 0 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 2
Gharavi Laboratory, Columbia University 2 0 0 0 0 2
3billion 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 1
Department Of Medical Genetics, Faculty Of Medicine, Ege University 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 1 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 1 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 1

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