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
23 16 331 127 93 17 535

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rasopathy 9 0 149 57 22 0 235
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 2 5 111 7 65 3 190
not specified 0 1 48 40 30 12 118
not provided 9 3 48 47 11 1 116
Noonan-like syndrome 0 0 9 6 1 0 16
Inborn genetic diseases 1 2 5 0 0 0 8
none provided 0 0 1 1 6 0 8
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; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 4 0 0 0 0 1 5
Hematologic neoplasm 0 2 0 0 0 0 2
Juvenile myelomonocytic leukemia 2 1 0 0 0 0 2
Juvenile myelomonocytic leukemia; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 1 1 1 0 0 0 2
Rhabdomyosarcoma (disease) 1 1 0 0 0 0 2
B lymphoblastic leukemia lymphoma with hyperdiploidy 0 0 1 0 0 0 1
Cardiomyopathy, left ventricular noncompaction 0 0 1 0 0 0 1
Global developmental delay 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
Noonan syndrome 1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 5 0 149 77 18 0 249
Illumina Clinical Services Laboratory,Illumina 1 0 108 11 63 0 183
GeneDx 13 2 45 30 30 0 120
Integrated Genetics/Laboratory Corporation of America 0 0 22 11 23 0 56
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 3 21 18 10 0 54
PreventionGenetics, PreventionGenetics 0 0 0 4 10 0 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 1 2 9 0 13
ITMI 0 0 0 0 0 12 12
OMIM 9 0 1 0 0 0 10
Ambry Genetics 1 2 5 0 0 0 8
Genetic Services Laboratory, University of Chicago 0 0 3 3 1 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 4 1 0 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 1 1 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 0 0 0 5
Baylor Genetics 1 2 1 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 1 0 0 3
Blueprint Genetics 1 0 2 0 0 0 3
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 3 3
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 1 1 0 0 3
Clinical Genetics laboratory, University of Goettingen 0 0 2 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 0 0 0 2
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 0 1 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 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
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

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