ClinVar Miner

Variants in gene POLD1

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
13 10 3419 2748 447 58 5828

Condition and significance breakdown #

Total conditions: 51
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Colorectal cancer, susceptibility to, 10 5 4 2670 2004 339 1 4759
Hereditary cancer-predisposing syndrome 3 2 1700 1380 90 0 3092
not provided 3 1 665 334 125 7 1054
not specified 0 0 197 440 114 0 695
POLD1-related disorder 1 0 61 99 6 0 167
Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome; Immunodeficiency 120 0 0 70 20 3 0 93
Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome 0 0 44 10 0 6 60
Mandibular hypoplasia-deafness-progeroid syndrome 2 2 22 7 9 3 44
Carcinoma of colon 0 0 8 12 11 0 31
Polymerase proofreading-related adenomatous polyposis 0 0 11 13 2 0 26
Familial colorectal cancer type X; Polymerase proofreading-related adenomatous polyposis 0 0 12 6 2 0 20
Familial colorectal cancer 0 0 9 1 0 0 10
Familial colorectal cancer type X 0 0 5 3 1 0 9
Malignant tumor of breast 0 0 4 2 1 0 7
Colorectal cancer 1 0 5 0 0 0 6
Hereditary cancer 0 0 0 6 0 0 6
Malignant tumor of urinary bladder 0 0 0 0 0 6 6
Familial colorectal cancer; Mandibular hypoplasia-deafness-progeroid syndrome 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 5 5
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Colon adenocarcinoma 0 0 0 0 0 4 4
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 4 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Endometrial carcinoma 0 0 1 2 0 0 3
Familial cancer of breast 0 0 0 0 0 3 3
Immunodeficiency 120 3 0 0 0 0 0 3
Neoplasm 0 0 3 0 0 0 3
Sarcoma 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Cervical cancer 0 0 0 0 0 2 2
Inherited polyposis and early onset colorectal cancer - germline testing 0 0 2 0 0 0 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Bile duct cancer 0 0 0 1 0 0 1
Carcinoma of pancreas 1 0 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Colon cancer 0 0 0 1 0 0 1
Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome; Adenomatous polyp of colon 0 0 0 0 0 1 1
Combined immunodeficiency 0 1 0 0 0 0 1
Embryonal rhabdomyosarcoma 0 1 0 0 0 0 1
Familial ovarian cancer 0 0 0 1 0 0 1
Infiltrating duct carcinoma of breast 0 0 1 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1
Lipodystrophy - childhood onset 1 0 0 0 0 0 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Micrognathia 1 0 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
See cases 0 0 0 1 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 85
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3 1 2634 1925 99 0 4662
Ambry Genetics 2 1 1664 1348 49 0 3064
GeneDx 2 0 579 435 75 0 1091
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 119 213 56 0 388
Myriad Genetics, Inc. 0 3 6 124 237 0 370
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 171 53 85 0 309
PreventionGenetics, part of Exact Sciences 1 0 74 146 47 0 268
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 69 69 23 0 162
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 37 57 62 0 156
Sema4, Sema4 0 0 48 63 42 0 153
CeGaT Center for Human Genetics Tuebingen 0 0 20 91 9 0 120
Fulgent Genetics, Fulgent Genetics 0 0 97 10 0 0 107
Counsyl 0 2 34 57 6 0 99
Baylor Genetics 2 0 89 0 0 0 91
Breakthrough Genomics, Breakthrough Genomics 0 0 6 35 48 0 89
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 5 18 62 0 85
Mendelics 0 0 24 38 2 0 64
Genetic Services Laboratory, University of Chicago 0 0 24 23 10 0 57
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 13 12 24 0 49
True Health Diagnostics 0 0 17 29 1 0 47
Mayo Clinic Laboratories, Mayo Clinic 0 0 15 19 10 0 44
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 39 0 0 0 39
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 38 38
Clinical Genetics, Academic Medical Center 0 0 1 9 24 0 34
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 8 17 0 26
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 0 0 2 24 0 26
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 20 1 1 0 22
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 16 2 0 0 18
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 14 14
Molecular Pathology, Peter Maccallum Cancer Centre 0 0 13 1 0 0 14
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 1 1 5 0 4 0 11
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 10 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 8 1 0 9
Eurofins Ntd Llc (ga) 1 0 4 3 1 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 7 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 3 5 0 8
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 7 1 0 8
MGZ Medical Genetics Center 0 0 8 0 0 0 8
Revvity Omics, Revvity 1 0 7 0 0 0 8
CSER _CC_NCGL, University of Washington 0 0 6 1 0 0 7
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 7 0 0 0 7
OMIM 7 0 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 5 0 0 6
GeneKor MSA 0 0 0 0 6 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Dasa 0 0 1 3 1 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 4 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 1 0 0 4
Molecular Oncology Laboratory, Hospital Clínico San Carlos 0 0 3 0 1 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 1 0 1 0 3
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 3 0 0 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 1 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 1 0 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 2
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 0 2 0 0 2
Vantari Genetics 0 0 0 2 0 0 2
3billion 1 0 0 0 0 0 1
CZECANCA consortium 1 0 0 0 0 0 1
Catlab - Consorci Sanitari de Terrassa 0 0 1 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 0 1
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 0 1 0 0 1
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 0 1 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Genomic Center, National Cancer Institute 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 0 1
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 1
Hereditary Cancer Clinic, Medical College of Georgia 1 0 0 0 0 0 1
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 0 0 0 0 1 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades 0 1 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 0 1 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 1 0 0 0 0 1
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.