ClinVar Miner

Variants in gene CHEK2

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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
395 225 1440 550 29 1 5 35 2436

Condition and significance breakdown #

Total conditions: 49
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Familial cancer of breast 312 142 1080 246 11 0 0 1 1746
Hereditary cancer-predisposing syndrome 130 86 805 350 9 0 0 0 1330
not provided 54 68 291 95 6 0 0 23 498
not specified 2 1 83 162 23 0 0 10 271
Malignant tumor of breast 10 7 49 10 3 0 0 0 78
CHEK2-Related Cancer Susceptibility 2 7 31 2 2 0 0 0 43
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 6 13 14 1 0 0 0 0 33
Breast and colorectal cancer, susceptibility to 5 5 2 0 0 0 0 0 12
none provided 1 1 4 3 2 0 0 0 11
Li-Fraumeni syndrome 2 4 1 5 0 0 0 0 0 10
Breast neoplasm 3 4 2 0 0 0 0 0 9
Breast and/or ovarian cancer 4 4 0 0 0 0 0 0 8
Familial ovarian cancer 1 0 5 0 0 0 0 0 6
Breast cancer, susceptibility to 3 0 0 0 0 0 4 0 5
Breast cancer, susceptibility to; Prostate cancer, susceptibility to 1 4 0 0 0 0 0 0 5
Prostate cancer, somatic 5 0 0 0 0 0 0 0 5
Carcinoma of pancreas 3 1 0 0 0 0 0 0 4
Familial cancer of breast; Li-Fraumeni syndrome 2 4 0 0 0 0 0 0 0 4
Li-Fraumeni syndrome 2 2 0 0 0 0 0 0 4
Prostate cancer, susceptibility to 0 0 0 0 0 0 4 0 4
Colorectal cancer 0 0 3 0 0 0 0 0 3
Cancer of multiple types, susceptibility to 0 0 0 0 0 0 2 0 2
Carcinoma of colon 0 0 2 0 0 0 0 0 2
Colorectal cancer, susceptibility to 0 0 0 0 0 0 2 0 2
Endometrial carcinoma 0 0 2 0 0 0 0 0 2
Inborn genetic diseases 0 1 1 0 0 0 0 0 2
Osteosarcoma 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
Breast neoplasm; Leiomyosarcoma 1 0 0 0 0 0 0 0 1
CHEK2-related cancer risk 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
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 carcinoma; 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
Hereditary cancer 0 0 0 0 0 0 0 1 1
Li-Fraumeni syndrome 1 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
Nephroblastoma 1 0 0 0 0 0 0 0 1
Premature ovarian failure 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: 74
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 303 112 1048 255 9 0 0 0 1727
Ambry Genetics 111 63 637 172 5 0 0 0 988
Color Health, Inc 52 36 418 226 9 0 0 0 741
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 11 14 96 25 7 0 0 0 153
Quest Diagnostics Nichols Institute San Juan Capistrano 16 15 84 11 2 0 0 0 128
Department of Pathology and Laboratory Medicine,Sinai Health System 12 7 70 14 3 0 0 0 106
Mendelics 5 13 62 17 1 0 0 0 98
CeGaT Praxis fuer Humangenetik Tuebingen 9 9 23 7 0 0 0 0 48
Illumina Clinical Services Laboratory,Illumina 2 5 33 2 2 0 0 0 42
Fulgent Genetics,Fulgent Genetics 7 1 33 0 0 0 0 0 41
GeneKor MSA 5 7 20 1 0 0 0 0 33
University of Washington Department of Laboratory Medicine, University of Washington 4 5 2 21 0 0 0 0 32
PreventionGenetics, PreventionGenetics 1 3 14 6 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 1 7 4 2 0 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 2 2 13 0 0 0 0 0 17
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 10 5 0 0 0 0 0 0 15
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 3 1 5 2 0 0 1 0 12
Division of Medical Genetics, University of Washington 2 1 9 0 0 0 0 0 12
CZECANCA consortium 6 5 0 0 0 0 0 0 11
ITMI 0 0 0 0 0 0 0 10 10
True Health Diagnostics 3 3 2 1 1 0 0 0 10
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 5 0 0 0 0 0 0 10
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 5 2 1 0 0 0 0 0 8
King Laboratory,University of Washington 5 0 0 0 2 0 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 4 0 0 0 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 0 0 7 7
Baylor Genetics 1 0 5 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 4 1 0 0 0 0 6
Center of Medical Genetics and Primary Health Care 1 3 2 1 0 0 0 0 6
Academic Department of Medical Genetics, University of Cambridge 2 3 0 0 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 3 0 0 0 0 0 5
Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf 0 0 5 0 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 4 0 0 0 0 0 0 0 4
Pathway Genomics 1 1 2 0 0 0 0 0 4
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 2 2 0 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
Molecular Oncology Research Center,Barretos Cancer Hospital 0 2 1 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 0 0 2
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
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
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 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
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 1 0 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 1 0 0 0 0 0 0 0 1
St. Jude 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
Unit of Medical Genetics, Department of Laboratory Medicine,San Giovanni Calibita Fatebenefratelli Hospital 0 1 0 0 0 0 0 0 1

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