ClinVar Miner

Variants studied for CBL-related disorder

Included ClinVar conditions (5):
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 not provided total
22 18 261 52 89 4 423

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CBL 17 17 250 49 85 4 399
CBL, FRA11B, LOC130006894 0 0 5 0 3 0 8
CBL, LOC130006895 0 0 3 3 1 0 7
ERF 3 1 0 0 0 0 4
CBL, LOC130006894 0 0 2 0 0 0 2
CDC42 1 0 0 0 0 0 1
FOXH1, KIFC2 0 0 1 0 0 0 1
PTPN11 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 144 5 83 0 233
PreventionGenetics, part of Exact Sciences 1 2 36 45 4 0 88
Fulgent Genetics, Fulgent Genetics 0 1 41 5 3 0 50
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 12 0 0 0 13
OMIM 9 0 0 0 0 0 9
Baylor Genetics 2 1 4 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 0 5
New York Genome Center 0 0 5 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 2 0 0 0 5
3billion 2 1 1 0 0 0 4
Department of Medical Genetics, Tohoku University School of Medicine 3 1 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 0 1 2 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 1 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 2 0 0 0 3
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Variantyx, Inc. 2 1 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 1 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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