ClinVar Miner

Variants in gene CBL

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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
31 49 1421 776 138 34 2244

Condition and significance breakdown #

Total conditions: 51
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RASopathy 12 13 763 540 36 0 1363
Cardiovascular phenotype 3 3 627 392 12 0 1037
CBL-related disorder 13 15 219 47 84 3 362
not provided 20 19 197 86 59 2 361
not specified 0 1 116 77 38 12 216
Noonan syndrome and Noonan-related syndrome 1 2 33 8 13 0 57
Juvenile myelomonocytic leukemia; CBL-related disorder 2 2 38 4 2 0 47
Juvenile myelomonocytic leukemia 4 3 6 1 18 0 30
Inborn genetic diseases 1 2 4 0 0 0 7
Noonan syndrome 3 3 1 0 0 0 7
See cases 1 0 6 0 0 0 7
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia 6 0 0 0 0 0 6
Acute myeloid leukemia 0 0 0 0 0 4 4
Gastric cancer 0 0 0 0 0 3 3
Lung cancer 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Hereditary cancer-predisposing syndrome 0 0 0 1 1 0 2
Intellectual disability 0 0 2 0 0 0 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Monogenic short statue 0 0 2 0 0 0 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 2 2
Pilocytic astrocytoma 0 2 0 0 0 0 2
Rhabdomyosarcoma 1 1 0 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
Acute myeloid leukemia with NPM1 somatic mutations 0 1 0 0 0 0 1
B lymphoblastic leukemia lymphoma with hyperdiploidy 0 0 1 0 0 0 1
Central nervous system germ cell tumor 1 0 0 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Congenital heart disease 0 0 1 0 0 0 1
Diffuse midline glioma, H3 K27M-mutant 0 1 0 0 0 0 1
Epilepsy, early-onset 0 0 1 0 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Fragile site 11b; CBL-related disorder 0 0 0 0 0 1 1
Germinoma 1 0 0 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Growth failure in early childhood 0 0 1 0 0 0 1
Hepatosplenomegaly 0 1 0 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 0 1
Malignant germ cell tumor of ovary 0 1 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Microcephaly 0 0 1 0 0 0 1
Myeloproliferative disorder 0 1 0 0 0 0 1
Neoplasm 0 0 1 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 1
Noonan syndrome 1 1 0 0 0 0 0 1
Noonan-like syndrome 0 0 1 0 0 0 1
Thymoma 0 0 0 0 0 1 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 93
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 9 13 763 541 33 0 1359
Ambry Genetics 4 5 631 392 12 0 1044
GeneDx 22 13 143 43 46 0 267
Illumina Laboratory Services, Illumina 2 0 138 5 80 0 225
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 76 48 28 0 154
PreventionGenetics, part of Exact Sciences 1 2 35 46 13 0 97
CeGaT Center for Human Genetics Tuebingen 3 2 11 42 5 0 63
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 2 33 8 13 0 57
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 3 21 16 10 0 53
Breakthrough Genomics, Breakthrough Genomics 0 0 10 10 29 0 49
Genetic Services Laboratory, University of Chicago 0 0 25 14 7 0 46
Fulgent Genetics, Fulgent Genetics 0 1 38 4 2 0 45
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 5 9 17 0 33
Revvity Omics, Revvity 2 1 18 1 0 0 22
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 1 18 0 20
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 18 18
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 2 13 0 0 0 15
Clinical Genetics, Academic Medical Center 0 0 1 4 7 0 12
ITMI 0 0 0 0 0 12 12
Baylor Genetics 2 2 6 0 0 0 10
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 3 6 0 10
OMIM 9 0 1 0 0 0 10
AiLife Diagnostics, AiLife Diagnostics 0 0 9 0 0 0 9
Centre of Medical Genetics, University Hospital Muenster 1 0 7 0 0 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 4 4 0 8
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 5 0 0 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 2 0 2 0 3 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 1 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 2 0 6
New York Genome Center 0 0 6 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 3 1 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 2 0 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 3 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
Blueprint Genetics 1 1 2 0 0 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 4 0 0 0 4
Eurofins Ntd Llc (ga) 0 0 3 0 1 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 0 0 4
Mendelics 0 1 1 1 1 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 2 0 0 0 3
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
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
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 2 0 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 0 0 1 1 0 2
NHS Central & South Genomic Laboratory Hub 0 0 2 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 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
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
Dasa 1 0 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 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
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Klaassen Lab, Charite University Medicine Berlin 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, University of Rochester Medical Center 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 1 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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