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
10 14 2428 1271 166 2 1 3 3638

Condition and significance breakdown #

Total conditions: 19
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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 2137 718 79 0 1 0 2899
Hereditary cancer-predisposing syndrome 2 0 397 433 27 0 0 0 839
not provided 2 5 381 347 140 0 0 3 835
not specified 0 0 110 509 71 0 0 0 639
Colorectal cancer, susceptibility to, 12; Facial dysmorphism, immunodeficiency, livedo, and short stature 1 0 45 1 0 0 0 0 47
COLORECTAL CANCER 0 0 46 0 0 0 0 0 46
Colorectal cancer 0 0 5 1 0 0 0 0 6
Facial dysmorphism, immunodeficiency, livedo, and short stature 1 2 3 0 0 0 0 0 6
INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY 5 0 0 0 0 0 0 0 5
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
Neoplasm of the breast 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
Adenocarcinoma of stomach 0 1 0 0 0 0 0 0 1
Colon cancer 0 0 1 0 0 0 0 0 1
Glioblastoma 0 1 0 0 0 0 0 0 1
POLE Exonuclease Domain Mutation 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Invitae 1 1 2099 848 77 0 0 0 3026
Ambry Genetics 1 0 379 409 27 0 0 0 816
GeneDx 1 1 200 530 70 0 0 0 802
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 212 82 92 0 0 0 365
PreventionGenetics,PreventionGenetics 0 0 48 50 57 0 0 0 155
Counsyl 0 1 67 71 12 0 0 0 151
Mendelics 0 0 62 27 0 0 0 0 87
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 57 2 10 0 0 0 69
CeGaT Praxis fuer Humangenetik Tuebingen 1 3 45 18 0 0 0 0 67
True Health Diagnostics 1 0 27 34 1 0 0 0 63
Integrated Genetics/Laboratory Corporation of America 0 0 3 6 45 0 0 0 54
Fulgent Genetics,Fulgent Genetics 1 0 45 1 0 0 0 0 47
University of Washington Department of Laboratory Medicine, University of Washington 0 0 3 9 1 0 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 3 9 0 0 0 12
OMIM 6 0 0 0 0 0 1 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 7 0 0 0 0 0 7
CSER _CC_NCGL, University of Washington 0 0 5 1 0 0 0 0 6
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 3 0 0 0 0 0 3
Division of Genomic Diagnostics,The 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 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
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
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
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

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