ClinVar Miner

Variants in gene CBL

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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 not provided total
26 35 857 494 137 18 1404

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RASopathy 11 9 539 401 34 0 993
CBL-related disorder 5 10 166 7 82 3 271
not provided 14 10 119 72 43 2 246
not specified 0 1 97 56 36 12 177
Cardiovascular phenotype 0 1 60 99 7 0 167
Noonan syndrome and Noonan-related syndrome 1 2 33 8 13 0 57
Juvenile myelomonocytic leukemia; CBL-related disorder 2 2 36 4 2 0 45
Juvenile myelomonocytic leukemia 3 2 6 1 15 0 26
Inborn genetic diseases 1 2 19 2 0 0 24
Noonan-like syndrome 0 0 12 6 2 0 20
CBL-related condition 0 0 18 0 0 0 18
Noonan syndrome 2 3 1 0 0 0 6
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia 6 0 0 0 0 0 6
Fragile site 11b; CBL-related disorder 4 0 0 0 0 1 5
Stroke disorder 0 0 4 0 0 0 4
See cases 1 0 2 0 0 0 3
Hematologic neoplasm 0 2 0 0 0 0 2
Rhabdomyosarcoma 1 1 0 0 0 0 2
B lymphoblastic leukemia lymphoma with hyperdiploidy 0 0 1 0 0 0 1
Epilepsy, early-onset 0 0 1 0 0 0 1
Global developmental delay 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
Microcephaly 0 0 1 0 0 0 1
Myeloproliferative disorder 0 1 0 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 1
Noonan syndrome 1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 8 9 539 402 31 0 989
Illumina Laboratory Services, Illumina 2 0 147 11 82 0 242
GeneDx 18 4 85 43 46 0 196
Ambry Genetics 1 3 79 101 7 0 191
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 53 24 27 0 105
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 2 33 8 13 0 57
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 3 21 16 10 0 52
Genetic Services Laboratory, University of Chicago 0 0 24 14 7 0 45
Fulgent Genetics, Fulgent Genetics 0 1 36 4 2 0 43
CeGaT Center for Human Genetics Tuebingen 1 2 6 28 4 0 41
Preventiongenetics, part of Exact Sciences 0 0 18 4 10 0 32
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 2 7 15 0 25
Revvity Omics, Revvity Omics 2 1 16 0 0 0 19
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 1 15 0 17
Clinical Genetics, Academic Medical Center 0 0 1 4 7 0 12
ITMI 0 0 0 0 0 12 12
OMIM 9 0 1 0 0 0 10
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 3 6 0 10
Baylor Genetics 1 2 6 0 0 0 9
AiLife Diagnostics, AiLife Diagnostics 0 0 9 0 0 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 4 4 0 8
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 2 6 0 0 0 8
Institute of Human Genetics, University Hospital Muenster 1 0 7 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 2 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 1 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 3 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 1 0 0 0 4
Mendelics 0 1 1 1 1 0 4
Eurofins Ntd Llc (ga) 0 0 3 0 1 0 4
Blueprint Genetics 1 1 2 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 0 3 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 1 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 2 0 1 0 0 0 3
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 3 3
3billion 1 0 2 0 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Klaassen Lab, Charite University Medicine Berlin 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, University of Rochester Medical Center 0 1 0 0 0 0 1

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