ClinVar Miner

Variants in gene POLE

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Minimum submission review status: Collection method:
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Gene type:

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 drug response not provided total
578 235 6340 4627 444 2 95 10944

Condition and significance breakdown #

Total conditions: 65
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
not provided 558 191 4881 3493 233 0 7 9059
Hereditary cancer-predisposing syndrome 4 1 3543 2275 100 0 0 5819
not specified 0 0 386 677 120 0 0 1097
Colorectal cancer, susceptibility to, 12 7 15 353 212 233 0 3 798
Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 0 1 237 63 8 0 0 309
POLE-related disorder 1 13 126 126 4 0 0 270
Familial colorectal cancer type X; Polymerase proofreading-related adenomatous polyposis 1 0 41 29 6 0 0 77
Polymerase proofreading-related adenomatous polyposis 0 1 40 23 5 0 1 70
Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 1 0 41 1 0 0 13 56
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 6 5 21 0 14 0 0 46
Carcinoma of colon 2 0 11 16 7 0 0 36
POLE-related polyposis and colorectal cancer syndrome 0 2 3 21 5 0 1 32
Familial colorectal cancer 0 0 25 4 0 0 0 29
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 7 4 4 0 14 0 0 29
Familial colorectal cancer type X 0 0 16 10 0 0 0 26
Colorectal cancer, susceptibility to, 10 0 0 14 5 0 0 0 19
Hereditary cancer 0 0 1 18 0 0 0 19
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 15 15
Colorectal cancer 1 3 5 0 0 0 2 11
Familial colorectal cancer; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 0 0 0 0 0 0 10 10
Malignant tumor of breast 0 0 7 0 3 0 0 10
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 10 10
Gastric cancer 0 0 0 0 0 0 8 8
Acute myeloid leukemia 0 0 0 0 0 0 7 7
Familial cancer of breast 0 0 1 0 0 0 6 7
Cervical cancer 0 0 0 0 0 0 6 6
Lung cancer 0 0 0 0 0 0 6 6
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 6 6
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 0 5 5
Malignant tumor of esophagus 0 0 0 0 0 0 5 5
Neoplasm 0 4 1 0 0 0 0 5
Melanoma 0 1 0 0 0 0 3 4
Thymoma 0 0 0 0 0 0 4 4
Cholangiocarcinoma 0 0 0 0 0 0 3 3
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 3 0 0 0 0 0 0 3
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 0 2 1 0 0 0 0 3
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 3 3
Colon adenocarcinoma 0 0 0 0 0 0 2 2
Diffuse midline glioma, H3 K27-altered 0 0 2 0 0 0 0 2
Familial ovarian cancer 1 0 0 1 0 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 0 2 2
Inherited polyposis and early onset colorectal cancer - germline testing 0 0 2 0 0 0 0 2
Malignant tumor of urinary bladder 0 0 0 0 0 0 2 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 2 2
Pediatric high-grade glioma 0 0 2 0 0 0 0 2
Programmed death ligand-1 (PD-L1) blocking antibody response 0 0 0 0 0 2 0 2
Sarcoma 0 0 0 0 0 0 2 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 0 2 2
Adenocarcinoma of the large intestine 0 1 0 0 0 0 0 1
Cancer or benign tumor 0 0 1 0 0 0 0 1
Colon cancer 0 0 1 0 0 0 0 1
Colorectal cancer susceptibility 12 0 0 1 0 0 0 0 1
Colorectal cancer, susceptibility to, 12; Polymerase proofreading-related adenomatous polyposis 0 0 0 0 0 0 1 1
Colorectal carcinoma 0 1 0 0 0 0 0 1
Cystic fibrosis-gastritis-megaloblastic anemia syndrome 1 0 0 0 0 0 0 1
Endometrial carcinoma 0 0 0 0 1 0 0 1
Endometrioid adenocarcinoma 1 0 0 0 0 0 0 1
Germ cell tumor of testis 0 0 0 0 0 0 1 1
Myoepithelial tumor 1 0 0 0 0 0 0 1
Neuroepithelial neoplasm 0 0 1 0 0 0 0 1
POLE Exonuclease Domain Mutation 0 0 1 0 0 0 0 1
Uveal melanoma 0 0 0 0 0 0 1 1
XFE progeroid syndrome 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 104
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Labcorp Genetics (formerly Invitae), Labcorp 560 162 4686 3349 120 0 0 8877
Ambry Genetics 3 0 3508 2215 56 0 0 5782
GeneDx 4 28 963 588 124 0 0 1707
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 5 9 232 375 47 0 0 667
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 270 85 107 0 0 462
Department of Pathology and Laboratory Medicine, Sinai Health System 5 1 210 147 37 0 0 400
PreventionGenetics, part of Exact Sciences 1 12 157 169 58 0 0 397
Myriad Genetics, Inc. 0 0 13 95 161 0 0 269
Fulgent Genetics, Fulgent Genetics 1 0 192 22 3 0 0 218
Sema4, Sema4 0 0 52 111 46 0 0 209
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 1 65 57 74 0 0 203
CeGaT Center for Human Genetics Tuebingen 2 3 45 113 9 0 0 172
Counsyl 0 1 63 70 12 0 0 146
Breakthrough Genomics, Breakthrough Genomics 0 0 16 54 74 0 0 144
Mendelics 0 0 69 52 3 0 0 124
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 1 6 24 73 0 0 104
Baylor Genetics 0 0 102 0 0 0 0 102
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 95 0 0 0 0 96
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 30 27 36 0 0 93
Genetic Services Laboratory, University of Chicago 0 0 35 26 11 0 0 72
Mayo Clinic Laboratories, Mayo Clinic 0 0 23 22 25 0 0 70
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 56 2 9 0 0 67
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 63 63
True Health Diagnostics 1 0 27 33 1 0 0 62
Clinical Genetics, Academic Medical Center 0 0 0 16 38 0 0 54
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 17 24 0 0 41
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 37 0 0 0 0 39
Revvity Omics, Revvity 0 0 30 0 0 0 0 30
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 25 25
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 2 19 0 0 22
Molecular Pathology, Peter Maccallum Cancer Centre 0 0 14 5 0 0 0 19
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 13 5 0 0 18
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 14 2 0 0 17
MGZ Medical Genetics Center 0 0 16 0 0 0 0 16
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 14 1 0 0 0 15
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 0 2 2 11 0 0 15
Genome-Nilou Lab 0 0 0 0 14 0 0 14
University of Washington Department of Laboratory Medicine, University of Washington 0 0 3 10 1 0 0 14
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 7 4 0 0 11
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 1 1 5 2 1 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 1 9 0 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 0 9 9
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 2 4 0 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 5 1 0 0 8
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 8 0 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 3 2 1 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 0 6
GeneKor MSA 0 0 0 0 6 0 0 6
OMIM 6 0 0 0 0 0 0 6
3billion 0 2 3 0 0 0 0 5
CSER _CC_NCGL, University of Washington 0 0 5 0 0 0 0 5
Dasa 0 0 0 3 2 0 0 5
EVOGEN 0 5 0 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 5 0 0 0 0 5
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 0 2 3 0 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 3 2 0 0 5
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 5 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 1 0 0 0 0 4
Molecular Oncology Laboratory, Hospital Clínico San Carlos 0 1 2 1 0 0 0 4
New York Genome Center 0 1 3 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 0 4
Blueprint Genetics 0 1 2 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 1 0 0 3
Division of Gastroenterology and Hepatology, Shanghai Institute of Digestive Disease, Shanghai Jiao Tong University School of Medicine. 0 3 0 0 0 0 0 3
Division of Medical Genetics, University of Washington 0 0 3 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 2 0 0 0 0 3
Centre for Translational Omics - GOSgene, University College London 0 2 0 0 0 0 0 2
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 1 1 0 0 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 1 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 1 1 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 0 2
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 2 2
Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 2 0 2
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 0 0 2 0 0 0 0 2
3DMed Clinical Laboratory Inc 0 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
Biotechnology, Institute of Science, Nirma University 0 0 1 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 1 0 0 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 0 1 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 0 1
Genetic Predisposition to Colorectal Cancer Group, Institut d’Investigacions Biomediques August Pi i Sunyer 1 0 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 0 1
Genomic Center, National Cancer Institute 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Gynecological Pathology Laboratory, Kaohsiung Medical University Chung-Ho Memorial Hospital 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 0 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 0 1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Swedish National ChiCaP Initative, Genomic Medicine Sweden 0 1 0 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 0 1

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