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
22 11 212 148 44 16 402

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 9 2 48 69 25 1 145
Noonan-Like Syndrome Disorder 0 0 59 56 9 0 124
Rasopathy 7 0 96 11 7 0 121
not specified 0 1 26 33 19 12 83
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 5 4 5 4 4 3 25
Noonan syndrome 2 3 1 0 0 0 6
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia 5 0 0 0 0 0 5
Hematologic neoplasm 0 2 0 0 0 0 2
Inborn genetic diseases 1 0 1 0 0 0 2
Juvenile myelomonocytic leukemia 2 0 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
B lymphoblastic leukemia lymphoma with hyperdiploidy 0 0 1 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
Noonan syndrome 1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 3 0 96 61 18 0 178
Illumina Clinical Services Laboratory,Illumina 0 0 59 56 9 0 124
GeneDx 13 2 45 30 30 0 120
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 3 20 18 10 0 53
PreventionGenetics,PreventionGenetics 0 0 0 4 10 0 14
ITMI 0 0 0 0 0 12 12
OMIM 9 0 1 0 0 0 10
Genetic Services Laboratory, University of Chicago 0 0 3 3 1 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 2 4 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
Division of Genomic Diagnostics,The 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
Baylor Genetics 1 1 0 0 0 0 2
Ambry Genetics 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 0 0 0 2
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 1 1 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 1
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 Genetic Testing 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 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

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