ClinVar Miner

Variants in gene CHEK2

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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
198 143 918 392 25 1 5 32 1551

Condition and significance breakdown #

Total conditions: 33
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Hereditary cancer-predisposing syndrome 96 59 582 263 8 0 0 0 979
Familial cancer of breast 127 84 569 144 11 0 0 0 905
not provided 45 55 273 18 5 0 0 21 388
not specified 0 0 59 151 20 0 0 10 230
Familial cancer of breast; Li-Fraumeni syndrome 2; Osteosarcoma; Malignant tumor of prostate 7 1 33 0 0 0 0 0 41
Neoplasm of the breast 3 3 11 3 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 12
CHEK2-Related Cancer Susceptibility 2 5 1 0 0 0 0 0 8
Breast cancer, susceptibility to 4 0 0 0 0 0 3 0 6
Hereditary breast and ovarian cancer syndrome 2 3 0 0 0 0 0 0 5
Prostate cancer, somatic 5 0 0 0 0 0 0 0 5
Li-Fraumeni syndrome 1 3 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
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
Diffuse intrinsic pontine glioma 1 0 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
Malignant tumor of prostate 0 0 1 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: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 120 57 546 129 8 0 0 0 860
Ambry Genetics 82 39 472 114 5 0 0 0 712
Color 36 28 285 176 8 0 0 0 533
GeneDx 42 49 247 143 17 0 0 0 498
Counsyl 5 30 100 26 4 0 0 0 165
Integrated Genetics/Laboratory Corporation of America 6 9 74 10 6 0 0 0 105
Quest Diagnostics Nichols Institute San Juan Capistrano 10 8 54 6 1 0 0 0 79
Mendelics 3 9 47 0 1 0 0 0 60
Fulgent Genetics 7 1 33 0 0 0 0 0 41
GeneKor MSA 4 7 20 1 0 0 0 0 32
University of Washington Department of Laboratory Medicine,University of Washington 4 4 3 21 0 0 0 0 32
PreventionGenetics 1 3 13 7 5 0 0 0 29
Illumina Clinical Services Laboratory,Illumina 2 4 13 3 0 0 0 0 20
Institute. of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague 0 0 0 0 0 0 0 19 19
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 9 4 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
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 4 0 1 0 0 0 6
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
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 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
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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 0 1
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
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
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

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