ClinVar Miner

Variants in gene APC

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Gene type:
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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 association established risk allele risk factor other not provided total
2204 438 7883 3314 391 2 1 1 930 75 13957

Condition and significance breakdown #

Total conditions: 65
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele risk factor other not provided total
Familial adenomatous polyposis 1 1813 219 6152 2254 228 1 1 1 0 8 10362
Hereditary cancer-predisposing syndrome 713 87 4304 2227 141 0 1 1 0 0 7080
not provided 307 134 1238 419 163 0 1 1 0 8 2089
not specified 12 2 490 461 156 0 0 0 0 50 1014
Familial colorectal cancer 0 0 1 2 0 0 0 0 930 1 934
APC-Associated Polyposis Disorders 0 0 109 39 46 0 0 0 0 8 200
Carcinoma of colon 85 2 47 26 23 0 0 1 0 0 182
Familial multiple polyposis syndrome 92 49 15 7 7 0 0 0 0 0 170
APC-related condition 7 3 57 0 0 0 0 0 0 0 67
Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach 7 1 42 10 2 0 0 0 0 0 62
Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma 9 1 21 0 1 0 0 0 0 0 32
Colorectal cancer 13 2 8 0 0 0 1 1 0 0 24
Ovarian cancer 0 7 0 0 14 0 0 0 0 0 21
Colorectal cancer, susceptibility to 6 0 9 2 0 0 0 1 0 0 18
Hereditary cancer 0 0 0 16 0 0 0 0 0 0 16
Gastric cancer 15 0 0 0 0 0 0 0 0 0 15
Colorectal adenoma 0 0 9 4 0 0 0 0 0 0 13
Desmoid disease, hereditary 6 0 5 0 0 0 0 0 0 0 11
Gardner syndrome 10 0 0 0 0 0 0 0 0 0 10
Neoplasm of the liver 0 0 10 0 0 0 0 0 0 0 10
Inborn genetic diseases 0 0 8 1 0 0 0 0 0 0 9
Neoplasm of the large intestine 0 9 0 0 0 0 0 0 0 0 9
Malignant tumor of breast 1 0 2 4 0 0 0 0 0 0 7
Colon cancer 0 0 6 0 0 0 0 0 0 0 6
Neoplasm 0 4 0 0 0 0 0 0 0 0 4
Neoplasm of stomach 0 0 4 0 0 0 0 0 0 0 4
Rectum adenocarcinoma 0 0 4 0 0 0 0 0 0 0 4
Colon adenocarcinoma 1 0 2 0 0 0 0 0 0 0 3
Gastric adenocarcinoma and proximal polyposis of the stomach 1 0 2 0 0 0 0 0 0 0 3
Hepatocellular carcinoma 1 0 2 0 0 0 0 0 0 0 3
Intrahepatic cholangiocarcinoma 0 0 3 0 0 0 0 0 0 0 3
Brain tumor-polyposis syndrome 2 2 0 0 0 0 0 0 0 0 0 2
Breast carcinoma 0 0 2 0 0 0 0 0 0 0 2
Desmoid tumor 2 0 0 0 0 0 0 0 0 0 2
Diffuse midline glioma, H3 K27-altered 0 0 2 0 0 0 0 0 0 0 2
Duodenal adenocarcinoma 0 0 2 0 0 0 0 0 0 0 2
Endometrial carcinoma 0 0 2 0 0 0 0 0 0 0 2
Familial adenomatous polyposis 1; Gastric adenocarcinoma and proximal polyposis of the stomach; APC-related attenuated familial adenomatous polyposis 0 0 0 0 0 0 0 0 0 2 2
Familial cancer of breast 1 0 1 0 0 0 0 0 0 0 2
Gastrointestinal stromal tumor of small intestine 0 0 2 0 0 0 0 0 0 0 2
Hepatoblastoma 1 0 1 0 0 0 0 0 0 0 2
Lung adenocarcinoma 0 1 1 0 0 0 0 0 0 0 2
Periampullary adenoma 2 0 0 0 0 0 0 0 0 0 2
Adenomatous colonic polyposis 1 0 0 0 0 0 0 0 0 0 1
Adenomatous polyposis coli with congenital cholesteatoma 1 0 0 0 0 0 0 0 0 0 1
Adenomatous polyposis coli, susceptibility to 0 0 0 0 0 0 0 1 0 0 1
Attenuated familial adenomatous polyposis; Familial adenomatous polyposis 1 0 0 0 0 0 0 0 0 0 1 1
Atypical endometrial hyperplasia 0 0 0 0 0 1 0 0 0 0 1
Breast cancer, susceptibility to 0 0 0 0 0 0 0 1 0 0 1
Colonic neoplasm 1 0 0 0 0 0 0 0 0 0 1
Craniopharyngioma 1 0 0 0 0 0 0 0 0 0 1
Desmoid disease, hereditary; Familial adenomatous polyposis 1 0 0 0 0 0 0 0 0 0 1 1
Desmoid tumor caused by somatic mutation 1 0 0 0 0 0 0 0 0 0 1
Familial adenomatous polyposis 1; APC-related attenuated familial adenomatous polyposis 0 0 0 0 0 0 0 0 0 1 1
Familial adenomatous polyposis 1; Colorectal cancer 0 1 0 0 0 0 0 0 0 0 1
Familial adenomatous polyposis 1; Neoplasm of stomach 0 0 0 0 0 0 0 0 0 1 1
Familial adenomatous polyposis due to 5q22.2 microdeletion 1 0 0 0 0 0 0 0 0 0 1
Gastric polyposis; Duodenal polyposis; Adenomatous colonic polyposis; Intestinal polyp; Hyperplastic colonic polyposis 1 0 0 0 0 0 0 0 0 0 1
Gastrointestinal stromal tumor 0 0 1 0 0 0 0 0 0 0 1
Klatskin tumor 0 0 1 0 0 0 0 0 0 0 1
Malignant tumor of ascending colon 0 0 1 0 0 0 0 0 0 0 1
Monoclonal B-Cell Lymphocytosis 0 0 1 0 0 0 0 0 0 0 1
Primary amenorrhea 0 0 1 0 0 0 0 0 0 0 1
Sigmoid colon cancer 0 0 1 0 0 0 0 0 0 0 1
Squamous cell carcinoma 0 0 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 127
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele risk factor other not provided total
Invitae 1053 74 5947 2184 174 1 0 0 0 0 9433
Ambry Genetics 682 67 3357 1832 87 0 1 0 0 0 6026
Color Diagnostics, LLC DBA Color Health 77 16 1953 980 59 0 1 0 0 0 3085
GeneDx 172 43 879 433 143 0 0 1 0 2 1673
Myriad Genetics, Inc. 1225 81 159 41 43 0 0 0 0 0 1549
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 0 0 0 930 0 930
Baylor Genetics 50 38 560 0 0 0 0 0 0 0 648
Quest Diagnostics Nichols Institute San Juan Capistrano 71 20 342 108 91 0 0 0 0 0 632
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 51 38 316 156 65 0 0 0 0 0 626
Sema4, Sema4 3 7 252 139 60 0 0 0 0 0 461
Department of Pathology and Laboratory Medicine, Sinai Health System 151 3 128 53 32 0 1 0 0 0 367
Counsyl 8 20 208 68 5 0 0 0 0 0 309
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 8 1 96 146 35 0 0 0 0 0 286
Mendelics 14 5 161 42 21 0 0 0 0 0 243
Mayo Clinic Laboratories, Mayo Clinic 70 65 30 29 27 0 0 0 0 0 221
Preventiongenetics, part of Exact Sciences 8 4 105 42 40 0 0 1 0 0 200
Illumina Laboratory Services, Illumina 0 0 109 39 46 0 0 0 0 0 194
CeGaT Center for Human Genetics Tuebingen 11 3 35 88 13 0 0 0 0 0 150
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 26 3 21 30 44 0 1 0 0 0 125
Fulgent Genetics, Fulgent Genetics 14 2 63 10 3 0 0 0 0 0 92
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 11 7 52 7 12 0 0 1 0 0 90
University of Washington Department of Laboratory Medicine, University of Washington 6 0 9 64 0 0 0 1 0 0 80
KCCC/NGS Laboratory, Kuwait Cancer Control Center 7 0 8 13 43 0 0 0 0 0 71
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 3 0 54 7 3 0 0 0 0 0 67
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 0 28 7 32 0 0 0 0 0 67
Genetic Services Laboratory, University of Chicago 2 1 34 14 15 0 0 0 0 0 66
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 13 0 5 30 15 0 0 0 0 0 63
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 3 0 53 3 1 0 0 0 0 0 60
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel 7 11 14 7 17 0 0 0 0 0 56
Eurofins Ntd Llc (ga) 15 1 10 2 24 0 0 0 0 0 52
Clinical Genetics, Academic Medical Center 0 0 1 25 25 0 0 0 0 0 51
ITMI 0 0 0 0 0 0 0 0 0 50 50
3DMed Clinical Laboratory Inc 2 0 45 0 0 0 0 0 0 0 47
OMIM 44 0 1 0 0 0 0 1 0 0 46
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 38 0 6 0 0 0 0 0 44
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 7 0 3 13 20 0 0 0 0 0 43
True Health Diagnostics 0 0 7 31 2 0 0 1 0 0 41
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 3 0 2 16 12 0 0 0 0 0 33
Revvity Omics, Revvity Omics 7 1 24 0 0 0 0 0 0 0 32
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 7 0 1 16 8 0 0 0 0 0 32
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 14 15 0 0 0 0 0 30
CSER _CC_NCGL, University of Washington 0 0 21 7 0 0 0 0 0 0 27
GeneKor MSA 3 1 22 0 0 0 0 1 0 0 27
Clinical Genetics and Genomics, Karolinska University Hospital 24 0 0 0 0 0 0 0 0 0 24
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 7 0 0 14 0 0 0 0 0 21
Pathway Genomics 9 0 7 2 2 0 0 0 0 0 20
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 11 1 6 0 0 0 0 0 18
MGZ Medical Genetics Center 3 9 5 0 0 0 0 0 0 0 17
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 10 7 0 0 0 0 0 0 0 0 17
Center for Human Genetics, Inc, Center for Human Genetics, Inc 7 3 3 1 0 0 0 0 0 0 14
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 1 7 0 0 0 0 0 0 0 14
Database of Curated Mutations (DoCM) 0 13 0 0 0 0 0 0 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 8 2 3 0 0 0 0 0 0 0 13
Laboratory for Genotyping Development, RIKEN 13 0 0 0 0 0 0 0 0 0 13
Laboratory of Molecular and Cellular Biology, University of Science and Technology Houari Boumediene 13 0 0 0 0 0 0 0 0 0 13
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 12 12
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 12 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 6 0 0 0 0 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 1 0 0 0 0 0 0 0 0 8
deCODE genetics, Amgen 0 8 0 0 0 0 0 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 3 0 0 0 0 0 0 0 6
Molecular Oncology Laboratory, Hospital Clínico San Carlos 2 0 4 0 0 0 0 0 0 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 1 3 0 0 0 0 0 0 0 6
Yale Center for Mendelian Genomics, Yale University 5 0 0 0 0 0 0 0 0 0 5
GeneReviews 0 0 0 0 0 0 0 0 0 4 4
Genome Sciences Centre, British Columbia Cancer Agency 3 1 0 0 0 0 0 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 3 0 0 0 0 0 0 4
Division of Medical Genetics, University of Washington 1 0 3 0 0 0 0 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 0 1 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 2 0 0 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 2 0 0 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 2 0 0 0 0 0 0 0 0 3
National Molecular Genetics Centre of Cancer Research, N.N. Alexandrov National Cancer Centre of Belarus 3 0 0 0 0 0 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 0 0 0 0 0 0 0 0 3
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 2 1 0 0 0 0 0 3
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 0 1 1 0 0 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 1 2 0 0 0 0 0 0 0 3
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 1 0 2 0 0 0 0 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 1 2 0 0 0 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 1 0 1 0 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 0 0 0 0 2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 2 0 0 0 0 0 0 0 2
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 0 0 2 0 0 0 0 0 0 0 2
University Health Network, Princess Margaret Cancer Centre 2 0 0 0 0 0 0 0 0 0 2
Genomic Center, National Cancer Institute 2 0 0 0 0 0 0 0 0 0 2
New York Genome Center 1 0 0 0 0 0 1 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 1 1 0 0 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 0 0 0 1
Karsan Lab, BC Cancer Agency 0 0 1 0 0 0 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 0 0 0 0 0 0 1 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 0 1 0 0 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 1 0 0 0 0 0 0 0 1
Cancer Diagnostics Division, Gene Solutions 0 1 0 0 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 0 1 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 0 0 0 0 1
3billion 0 1 0 0 0 0 0 0 0 0 1
Laboratorio de Investigacion Basica Clinica, Universidad Autonoma de Nuevo Leon 1 0 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 1 0 0 0 0 0 0 0 1
Cancer Genomics Lab, PINUM Cancer Hospital 0 0 1 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 0 0 1
Martignetti Lab, Icahn School of Medicine at Mount Sinai 0 0 0 0 0 1 0 0 0 0 1

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