ClinVar Miner

Variants in gene CBL

See also:
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
20 9 194 122 41 16 359

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rasopathy 7 0 81 35 22 0 143
Noonan-Like Syndrome Disorder 0 0 59 56 9 0 124
not provided 9 2 47 22 9 1 89
not specified 0 1 26 31 19 12 81
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 6 4 4 1 1 3 19
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 0 1 0 0 0 2
B lymphoblastic leukemia lymphoma with hyperdiploidy 0 0 1 0 0 0 1
Malignant germ cell tumor of ovary 0 1 0 0 0 0 1
Noonan syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 3 0 81 35 16 0 135
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 16 10 0 51
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
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
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 3 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 0 1 0 2
Ambry Genetics 1 0 1 0 0 0 2
Database of Curated Mutations (DoCM) 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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 1
Fulgent Genetics 0 0 1 0 0 0 1
Blueprint Genetics, 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 0 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.