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
9 11 1630 993 109 2 1 3 2556

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 2 1413 592 71 0 1 0 2056
not specified 0 0 113 510 68 0 0 0 642
Hereditary cancer-predisposing syndrome 2 0 217 407 27 0 0 0 634
not provided 1 3 300 85 78 0 0 3 446
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 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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Invitae 1 0 1385 526 67 0 0 0 1979
GeneDx 1 1 200 488 38 0 0 0 728
Ambry Genetics 1 0 200 383 27 0 0 0 611
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 146 79 63 0 0 0 266
PreventionGenetics 0 0 48 50 57 0 0 0 155
Counsyl 0 1 67 71 12 0 0 0 151
True Health Diagnostics 1 0 27 34 1 0 0 0 63
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 48 2 10 0 0 0 60
Integrated Genetics/Laboratory Corporation of America 0 0 5 5 44 0 0 0 54
Fulgent Genetics 1 0 45 1 0 0 0 0 47
Mendelics 0 0 46 0 0 0 0 0 46
University of Washington Department of Laboratory Medicine,University of Washington 0 0 3 9 1 0 0 0 13
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 Medical Center 0 0 5 1 0 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 4 0 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
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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