ClinVar Miner

Variants in gene APC

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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 risk factor other not provided total
1056 248 5073 1759 233 1 1 930 58 8710

Condition and significance breakdown #

Total conditions: 64
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
Familial adenomatous polyposis 1 686 89 3821 920 142 1 1 0 2 5527
Hereditary cancer-predisposing syndrome 345 41 2507 1246 75 0 1 0 0 4085
not provided 259 113 682 346 69 0 1 0 6 1388
Familial colorectal cancer 0 0 1 2 0 0 0 930 0 933
not specified 12 1 289 411 122 0 0 0 50 772
APC-Associated Polyposis Disorders 0 0 109 39 46 0 0 0 0 194
Carcinoma of colon 85 2 47 26 23 0 1 0 0 182
Familial multiple polyposis syndrome 61 28 15 7 7 0 0 0 0 118
Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma 9 1 22 0 1 0 0 0 0 33
none provided 2 0 0 8 16 0 0 0 0 26
Colorectal cancer, susceptibility to 6 0 10 1 0 0 1 0 0 18
Colorectal cancer 5 0 8 0 0 0 1 0 0 14
Colorectal adenoma 0 0 9 4 0 0 0 0 0 13
Gardner syndrome 10 0 0 0 0 0 0 0 0 10
Neoplasm of the liver 0 0 10 0 0 0 0 0 0 10
Neoplasm of the large intestine 0 9 0 0 0 0 0 0 0 9
Desmoid disease, hereditary 6 0 2 0 0 0 0 0 0 8
Malignant tumor of breast 1 0 2 4 0 0 0 0 0 7
Malignant tumor of colon 0 0 6 0 0 0 0 0 0 6
Neoplasm of stomach 2 0 4 0 0 0 0 0 0 6
Malignant Colorectal Neoplasm 3 1 0 0 0 0 0 0 0 4
Neoplasm 0 4 0 0 0 0 0 0 0 4
Rectal Adenocarcinoma 0 0 4 0 0 0 0 0 0 4
Colon adenocarcinoma 1 0 2 0 0 0 0 0 0 3
Gastric adenocarcinoma and proximal polyposis of the stomach 3 0 0 0 0 0 0 0 0 3
Hepatocellular carcinoma 1 0 2 0 0 0 0 0 0 3
Intrahepatic cholangiocarcinoma 0 0 3 0 0 0 0 0 0 3
Brain tumor-polyposis syndrome 2 2 0 0 0 0 0 0 0 0 2
Desmoid tumor 2 0 0 0 0 0 0 0 0 2
Duodenal adenocarcinoma 0 0 2 0 0 0 0 0 0 2
Endometrial carcinoma 0 0 2 0 0 0 0 0 0 2
Gastrointestinal stromal tumor of small intestine 0 0 2 0 0 0 0 0 0 2
Periampullary adenoma 2 0 0 0 0 0 0 0 0 2
Acute megakaryoblastic leukemia 0 0 1 0 0 0 0 0 0 1
Adenomatous colonic polyposis 1 0 0 0 0 0 0 0 0 1
Adenomatous polyposis coli with congenital cholesteatoma 1 0 0 0 0 0 0 0 0 1
Adenomatous polyposis coli, susceptibility to 0 0 0 0 0 0 1 0 0 1
Alveolar rhabdomyosarcoma (disease); Sarcoma 0 0 1 0 0 0 0 0 0 1
B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy 0 0 1 0 0 0 0 0 0 1
B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 0 0 1 0 0 0 0 0 0 1
B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged 0 0 1 0 0 0 0 0 0 1
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 0 0 1 0 0 0 0 0 0 1
B lymphoblastic leukemia lymphoma with hyperdiploidy 0 0 1 0 0 0 0 0 0 1
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 0 0 1 0 0 0 0 0 0 1
Breast cancer, susceptibility to 0 0 0 0 0 0 1 0 0 1
Craniopharyngioma 1 0 0 0 0 0 0 0 0 1
Desmoid disease, hereditary; Familial adenomatous polyposis 1 0 0 0 0 0 0 0 0 1 1
Desmoid tumor, somatic 1 0 0 0 0 0 0 0 0 1
Familial cancer of breast 0 0 1 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 1
Gastrointestinal stromal tumor 0 0 1 0 0 0 0 0 0 1
Hepatoblastoma 1 0 0 0 0 0 0 0 0 1
Klatskin tumor 0 0 1 0 0 0 0 0 0 1
Lung adenocarcinoma 0 1 0 0 0 0 0 0 0 1
Malignant tumor of ascending colon 0 0 1 0 0 0 0 0 0 1
Malignant tumor of sigmoid colon 0 0 1 0 0 0 0 0 0 1
Monoclonal B-Cell Lymphocytosis 0 0 1 0 0 0 0 0 0 1
Myeloid Leukemia Associated with Down Syndrome 0 0 1 0 0 0 0 0 0 1
Neuroepithelial neoplasm; Granular cell cancer 0 0 1 0 0 0 0 0 0 1
Papillary renal cell carcinoma 0 0 1 0 0 0 0 0 0 1
Pilocytic astrocytoma 0 0 1 0 0 0 0 0 0 1
Primary amenorrhea 0 0 1 0 0 0 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 0 0 0 1
T Lymphoblastic Leukemia/Lymphoma 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 74
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
Invitae 633 60 3696 958 136 1 0 0 0 5484
Ambry Genetics 313 36 1649 776 46 0 0 0 0 2820
Color Health, Inc 53 7 1570 808 59 0 0 0 0 2496
GeneDx 150 35 416 332 71 0 1 0 3 1008
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 0 0 930 0 930
Integrated Genetics/Laboratory Corporation of America 20 17 224 115 52 0 0 0 0 428
Quest Diagnostics Nichols Institute San Juan Capistrano 48 17 222 59 60 0 0 0 0 399
Department of Pathology and Laboratory Medicine,Sinai Health System 151 3 128 53 32 0 0 0 0 367
Counsyl 8 20 208 68 5 0 0 0 0 309
Mendelics 10 4 155 26 11 0 0 0 0 206
Mayo Clinic Laboratories, Mayo Clinic 65 58 26 29 26 0 0 0 0 204
Illumina Clinical Services Laboratory,Illumina 0 0 109 39 46 0 0 0 0 194
PreventionGenetics, PreventionGenetics 1 1 52 40 40 0 0 0 0 134
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 21 1 15 20 42 0 0 0 0 99
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 11 7 52 7 12 0 1 0 0 90
University of Washington Department of Laboratory Medicine, University of Washington 6 0 10 63 0 0 1 0 0 80
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 42 28 0 0 0 0 0 74
OMIM 51 0 1 0 0 0 1 0 0 53
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 15 1 10 2 24 0 0 0 0 52
ITMI 0 0 0 0 0 0 0 0 50 50
3DMed Clinical Laboratory Inc 2 0 45 0 0 0 0 0 0 47
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 38 0 6 0 0 0 0 44
True Health Diagnostics 0 0 7 31 2 0 1 0 0 41
Fulgent Genetics,Fulgent Genetics 9 1 22 0 1 0 0 0 0 33
CSER _CC_NCGL, University of Washington 0 0 21 7 0 0 0 0 0 27
GeneKor MSA 3 1 22 0 0 0 1 0 0 27
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 24 0 0 0 0 0 0 0 0 24
Pathway Genomics 9 0 7 2 2 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 18
Baylor Genetics 2 0 14 0 0 0 0 0 0 16
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 10 6 0 0 0 0 0 0 0 16
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 2 0 14 0 0 0 0 0 0 16
Center for Human Genetics, Inc,Center for Human Genetics, Inc 7 3 3 1 0 0 0 0 0 14
Database of Curated Mutations (DoCM) 0 13 0 0 0 0 0 0 0 13
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 3 0 0 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 3 0 3 0 0 0 0 0 0 6
Molecular Oncology Laboratory,Hospital Clínico San Carlos 2 0 4 0 0 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 1 0 0 0 0 0 0 0 6
Yale Center for Mendelian Genomics,Yale University 5 0 0 0 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 5 5
Genetic Services Laboratory, University of Chicago 0 0 1 2 1 0 0 0 0 4
GeneReviews 3 0 0 0 1 0 0 0 0 4
Genome Sciences Centre,British Columbia Cancer Agency 3 1 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 4
Division of Medical Genetics, University of Washington 1 0 3 0 0 0 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 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 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 3
Clinical Genetics laboratory, University of Goettingen 1 0 1 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 0 0 0 2
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 0 1 1 0 0 0 0 0 2
Genomic Center,National Cancer Institute 2 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 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 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 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 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 1
Karsan Lab,BC Cancer Agency 0 0 1 0 0 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 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 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 0 0 0 1 0 0 1
Department of Traditional Chinese Medicine,Fujian Provincial Hospital 1 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 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 1 0 0 0 0 0 0 1
Cancer Diagnostics Division,Gene Solutions 0 1 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 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 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 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 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 1

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