ClinVar Miner

Variants in gene CHEK2

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Minimum submission review status: Collection method:
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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 association risk factor not provided total
286 190 1189 484 26 1 5 34 2017

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Familial cancer of breast 207 121 808 166 11 0 0 1 1275
Hereditary cancer-predisposing syndrome 123 79 733 308 8 0 0 0 1215
not provided 50 63 280 90 6 0 0 22 476
not specified 4 0 50 153 21 0 0 10 229
CHEK2-Related Cancer Susceptibility 2 5 31 2 2 0 0 0 42
Familial cancer of breast; Li-Fraumeni syndrome 2; Osteosarcoma; Malignant tumor of prostate 7 1 33 0 0 0 0 0 41
Hereditary breast and ovarian cancer syndrome 2 4 13 1 0 0 0 0 20
Colorectal cancer 0 0 12 3 0 0 0 0 15
Breast and colorectal cancer, susceptibility to 4 4 3 0 0 0 1 0 11
Neoplasm of the breast 3 4 2 0 0 0 0 0 9
Breast cancer, susceptibility to 4 0 0 0 0 0 3 0 5
Prostate cancer, somatic 5 0 0 0 0 0 0 0 5
Li-Fraumeni syndrome 2 2 0 0 0 0 0 0 4
Li-Fraumeni syndrome 2 4 0 0 0 0 0 0 0 4
Prostate cancer, susceptibility to 0 0 0 0 0 0 4 0 4
Cancer of multiple types, susceptibility to 0 0 0 0 0 0 2 0 2
Hereditary cancer 0 0 0 0 0 0 0 2 2
Inborn genetic diseases 0 1 1 0 0 0 0 0 2
Osteosarcoma 2 0 0 0 0 0 0 0 2
Ovarian Neoplasms 2 0 0 0 0 0 0 0 2
See cases 0 1 1 0 0 0 0 0 2
Astrocytoma 0 0 1 0 0 0 0 0 1
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 1 0 0 0 0 0 0 0 1
Breast cancer, susceptibility to; COLON CANCER, SUSCEPTIBILITY TO 0 0 0 0 0 0 0 1 1
Colitis; Inflammation of the large intestine; Hematochezia; Thrombocytopenia 1 0 0 0 0 0 0 0 1
Colorectal cancer, susceptibility to 0 0 0 0 0 0 1 0 1
Congenital heart defects, multiple types, 3 1 0 0 0 0 0 0 0 1
Diffuse intrinsic pontine glioma 1 0 0 0 0 0 0 0 1
Familial cancer of breast; Li-Fraumeni syndrome 2; Hereditary breast and ovarian cancer syndrome 0 1 0 0 0 0 0 0 1
Familial cancer of breast; Lung cancer; Malignant tumor of prostate; Carcinoma of colon 0 1 0 0 0 0 0 0 1
Gastrointestinal carcinoma; Adrenocortical carcinoma 0 0 1 0 0 0 0 0 1
Hereditary breast cancer 0 1 0 0 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 0 0 1
NK-cell enteropathy 0 1 0 0 0 0 0 0 1
Neoplasm of the breast; Leiomyosarcoma 1 0 0 0 0 0 0 0 1
Nephroblastoma 1 0 0 0 0 0 0 0 1
Sarcoma 1 0 0 0 0 0 0 0 1
Triple-negative breast cancer 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 201 91 778 200 9 0 0 0 1279
Ambry Genetics 109 63 641 168 5 0 0 0 986
Color 36 28 285 176 8 0 0 0 533
GeneDx 43 50 247 153 18 0 0 0 511
Counsyl 5 30 100 26 4 0 0 0 165
Integrated Genetics/Laboratory Corporation of America 7 8 69 14 7 0 0 0 105
Quest Diagnostics Nichols Institute San Juan Capistrano 14 12 68 7 2 0 0 0 103
Mendelics 5 13 62 17 1 0 0 0 98
Fulgent Genetics,Fulgent Genetics 7 1 33 0 0 0 0 0 41
Illumina Clinical Services Laboratory,Illumina 2 4 33 4 2 0 0 0 41
CeGaT Praxis fuer Humangenetik Tuebingen 6 8 20 4 0 0 0 0 38
GeneKor MSA 5 7 20 1 0 0 0 0 33
University of Washington Department of Laboratory Medicine, University of Washington 4 4 3 21 0 0 0 0 32
PreventionGenetics,PreventionGenetics 1 3 13 7 5 0 0 0 29
Institute. of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague 0 0 0 0 0 0 0 19 19
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 1 13 1 0 0 0 0 15
OMIM 11 0 0 0 0 0 5 0 14
Genetic Services Laboratory, University of Chicago 4 0 6 2 0 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 0 4 2 1 0 0 0 11
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 9 1 0 0 0 0 0 0 10
ITMI 0 0 0 0 0 0 0 10 10
True Health Diagnostics 3 3 2 1 1 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 4 1 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 0 6 6
Academic Department of Medical Genetics, University of Cambridge 2 3 0 0 0 0 0 0 5
Center of Medical Genetics and Primary Health Care 1 3 1 0 0 0 0 0 5
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 4 0 0 0 0 0 0 0 4
Pathway Genomics 1 1 2 0 0 0 0 0 4
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 1 1 1 0 0 0 0 3
3DMed Clinical Laboratory Inc 2 0 1 0 0 0 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 1 0 0 0 2
ISCA site 1 0 1 1 0 0 0 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 0 0 2
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 2 0 0 0 0 0 0 0 2
Liquid Biopsy and Precision Medicine Group,Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 1 0 1 0 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 0 0 1
Molecular Oncology Laboratory,Centre Jean Perrin 0 0 0 0 0 1 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 1 0 0 0 0 0 0 0 1
Dr. Peter K. Rogan Lab,Western University 0 1 0 0 0 0 0 0 1
Faculty of Pharmacy,Medical University of Gdansk 0 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Department of Molecular and Medical Genetics,Osaka Medical Center for Cancer and Cardiovascular Diseases 0 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 1
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 1 0 0 0 0 0 0 0 1
Human Genetics Institute Leipzig, Universitätsklinikum Leipzig 0 0 1 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 1 0 0 0 0 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 0 0 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 0 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 0 1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 0 1 0 0 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 0 0 1

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