ClinVar Miner

Variants studied for BBS10-related ciliopathy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
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
52 114 143 34 15 320

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
BBS10 52 113 143 34 15 319
BBS10, OSBPL8 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 15 1 54 18 7 95
Baylor Genetics 33 48 2 0 0 83
Counsyl 7 62 14 0 0 83
Illumina Laboratory Services, Illumina 3 0 55 2 12 72
Fulgent Genetics, Fulgent Genetics 14 8 29 18 0 69
Revvity Omics, Revvity 5 5 3 0 0 13
OMIM 6 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 0 0 0 4
Myriad Genetics, Inc. 1 0 3 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 3
Mendelics 2 0 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 0 0 3
Department Of Medical Genetics, Faculty Of Medicine, Ege University 3 0 0 0 0 3
New York Genome Center 0 0 3 0 0 3
Genome-Nilou Lab 0 1 1 1 0 3
3billion 1 1 1 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 2 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 0 1 0 0 1

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