ClinVar Miner

Variants in gene POLE

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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 drug response risk factor not provided total
15 16 3255 1462 177 2 1 4 4650

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Colorectal cancer, susceptibility to, 12 2 3 2999 1036 81 0 1 0 4077
not provided 3 6 421 370 140 0 0 3 892
Hereditary cancer-predisposing syndrome 2 0 395 436 27 0 0 0 839
not specified 0 0 121 516 87 0 0 0 658
Colorectal cancer, susceptibility to, 12; Facial dysmorphism, immunodeficiency, livedo, and short stature 1 0 45 1 0 0 0 0 47
Familial colorectal cancer 0 0 44 0 0 0 0 0 44
none provided 0 0 7 8 29 0 0 0 44
Carcinoma of colon 2 0 11 16 8 0 0 0 37
Polymerase proofreading-related adenomatous polyposis 0 0 11 9 4 0 0 0 24
Facial dysmorphism, immunodeficiency, livedo, and short stature 1 2 9 0 0 0 0 0 12
Malignant tumor of breast 0 0 8 0 3 0 0 0 11
Colorectal cancer 1 0 5 1 0 0 0 0 7
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 5 0 1 0 0 0 0 0 6
Malignant neoplasm of body of uterus 0 4 0 0 0 0 0 0 4
Neoplasm of the large intestine 0 4 0 0 0 0 0 0 4
Breast neoplasm 0 3 0 0 0 0 0 0 3
Pancreatic adenocarcinoma 0 3 0 0 0 0 0 0 3
Uterine Carcinosarcoma 0 3 0 0 0 0 0 0 3
Anti-PDL1 response 0 0 0 0 0 2 0 0 2
Familial ovarian cancer 1 0 0 1 0 0 0 0 2
Adenocarcinoma of stomach 0 1 0 0 0 0 0 0 1
Colorectal cancer susceptibility 12 0 0 1 0 0 0 0 0 1
Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 1 0 0 0 0 0 0 0 1
Endometrial carcinoma 0 0 0 0 1 0 0 0 1
Glioblastoma 0 1 0 0 0 0 0 0 1
Malignant tumor of colon 0 0 1 0 0 0 0 0 1
POLE Exonuclease Domain Mutation 0 0 1 0 0 0 0 0 1
Polymerase proofreading associated polyposis 0 0 0 0 0 0 0 1 1
Short stature 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Invitae 1 1 2967 1063 79 0 0 0 4111
Ambry Genetics 1 0 376 412 27 0 0 0 816
GeneDx 1 1 200 530 70 0 0 0 802
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 245 94 104 0 0 0 421
PreventionGenetics, PreventionGenetics 0 0 48 50 57 0 0 0 155
Counsyl 0 1 67 71 12 0 0 0 151
Department of Pathology and Laboratory Medicine,Sinai Health System 4 0 40 30 21 0 0 0 95
Integrated Genetics/Laboratory Corporation of America 1 0 17 16 56 0 0 0 90
Mendelics 0 0 60 27 0 0 0 0 87
CeGaT Praxis fuer Humangenetik Tuebingen 1 4 53 25 0 0 0 0 83
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 57 2 10 0 0 0 69
True Health Diagnostics 1 0 27 34 1 0 0 0 63
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 7 9 31 0 0 0 47
Fulgent Genetics,Fulgent Genetics 1 0 45 1 0 0 0 0 47
Baylor Genetics 0 0 17 0 0 0 0 0 17
University of Washington Department of Laboratory Medicine, University of Washington 0 0 3 11 1 0 0 0 15
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 8 0 0 0 0 0 8
OMIM 6 0 0 0 0 0 1 0 7
CSER _CC_NCGL, University of Washington 0 0 5 1 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 1 0 0 0 4
Database of Curated Mutations (DoCM) 0 4 0 0 0 0 0 0 4
Molecular Oncology Laboratory,Hospital Clínico San Carlos 0 1 2 1 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 2 0 1 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 1 0 0 0 0 3
Blueprint Genetics 0 1 2 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
Division of Medical Genetics, University of Washington 0 0 3 0 0 0 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 1 0 0 0 0 2
Centre for Translational Omics - GOSgene,University College London 0 2 0 0 0 0 0 0 2
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 2 0 0 2
New York Genome Center 0 1 1 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 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 0 1
Vantari Genetics 0 0 0 0 1 0 0 0 1
Color Health, Inc 0 0 1 0 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 0 1
3DMed Clinical Laboratory Inc 0 0 1 0 0 0 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 0 0 1 1
Genomic Center,National Cancer Institute 1 0 0 0 0 0 0 0 1

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