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 risk factor other not provided total
667 201 2800 1149 177 1 930 56 5512

Condition and significance breakdown #

Total conditions: 61
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Hereditary cancer-predisposing syndrome 237 34 1546 847 71 1 0 0 2643
Familial adenomatous polyposis 1 318 59 1732 474 104 1 0 1 2627
not provided 206 104 554 78 68 1 0 5 960
Familial colorectal cancer 0 0 1 0 0 0 930 0 931
not specified 8 1 247 366 106 0 0 50 676
Familial adenomatous polyposis 137 14 5 3 0 0 0 0 159
APC-Associated Polyposis Disorders 0 0 50 53 14 0 0 0 117
Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma 9 1 22 0 1 0 0 0 33
Familial multiple polyposis syndrome 1 1 11 4 6 0 0 0 23
Colorectal cancer, susceptibility to 6 0 10 1 0 1 0 0 18
Colorectal adenoma 0 0 9 4 0 0 0 0 13
Carcinoma of colon 2 0 7 0 0 1 0 0 10
Gardner syndrome 10 0 0 0 0 0 0 0 10
Neoplasm of the liver 0 0 10 0 0 0 0 0 10
Neoplasm of the large intestine 0 9 0 0 0 0 0 0 9
Colon cancer 0 0 6 0 0 0 0 0 6
Neoplasm of stomach 2 0 4 0 0 0 0 0 6
Colorectal cancer 0 0 5 0 0 0 0 0 5
Desmoid disease, hereditary 4 0 0 0 0 0 0 0 4
Malignant Colorectal Neoplasm 3 1 0 0 0 0 0 0 4
Neoplasm 0 4 0 0 0 0 0 0 4
Rectal Adenocarcinoma 0 0 4 0 0 0 0 0 4
Adenocarcinoma of the colon 1 0 2 0 0 0 0 0 3
Hepatocellular carcinoma 1 0 2 0 0 0 0 0 3
Intrahepatic Cholangiocarcinoma 0 0 3 0 0 0 0 0 3
Brain tumor-polyposis syndrome 2 2 0 0 0 0 0 0 0 2
Duodenal adenocarcinoma 0 0 2 0 0 0 0 0 2
Gastrointestinal stromal tumor of small intestine 0 0 2 0 0 0 0 0 2
Periampullary adenoma 2 0 0 0 0 0 0 0 2
Acute megakaryoblastic leukemia 0 0 1 0 0 0 0 0 1
Adenomatous colonic polyposis 1 0 0 0 0 0 0 0 1
Adenomatous polyposis coli with congenital cholesteatoma 1 0 0 0 0 0 0 0 1
Adenomatous polyposis coli, susceptibility to 0 0 0 0 0 1 0 0 1
Alveolar rhabdomyosarcoma; Sarcoma 0 0 1 0 0 0 0 0 1
B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy 0 0 1 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 1
B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged 0 0 1 0 0 0 0 0 1
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 0 0 1 0 0 0 0 0 1
B lymphoblastic leukemia lymphoma with hyperdiploidy 0 0 1 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 1
Breast cancer, susceptibility to 0 0 0 0 0 1 0 0 1
Craniopharyngioma 1 0 0 0 0 0 0 0 1
Desmoid disease, hereditary; Familial adenomatous polyposis 1 0 0 0 0 0 0 0 1 1
Desmoid tumor, somatic 1 0 0 0 0 0 0 0 1
Desmoid tumors 1 0 0 0 0 0 0 0 1
Familial cancer of breast 0 0 1 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 1
Gastrointestinal stroma tumor 0 0 1 0 0 0 0 0 1
Hepatoblastoma 1 0 0 0 0 0 0 0 1
Klatskin tumor 0 0 1 0 0 0 0 0 1
Lung adenocarcinoma 0 1 0 0 0 0 0 0 1
Malignant tumor of ascending colon 0 0 1 0 0 0 0 0 1
Malignant tumor of sigmoid colon 0 0 1 0 0 0 0 0 1
Monoclonal B-Cell Lymphocytosis 0 0 1 0 0 0 0 0 1
Myeloid Leukemia Associated with Down Syndrome 0 0 1 0 0 0 0 0 1
Neuroepithelial neoplasm; malignant granular cell tumor 0 0 1 0 0 0 0 0 1
Papillary renal cell carcinoma 0 0 1 0 0 0 0 0 1
Pilocytic astrocytoma 0 0 1 0 0 0 0 0 1
Primary amenorrhea 0 0 1 0 0 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 0 0 1
T Lymphoblastic Leukemia/Lymphoma 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 273 33 1658 429 103 1 0 0 2497
Ambry Genetics 218 30 956 482 41 0 0 0 1727
Color 30 6 966 540 59 0 0 0 1600
GeneDx 149 34 415 301 69 1 0 3 972
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 0 930 0 930
Counsyl 8 20 208 68 5 0 0 0 309
Integrated Genetics/Laboratory Corporation of America 10 9 176 40 38 0 0 0 273
Quest Diagnostics Nichols Institute San Juan Capistrano 30 15 135 31 33 0 0 0 236
Department of Pathology and Laboratory Medicine,Sinai Health System 130 2 33 18 29 0 0 0 212
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 65 58 26 29 26 0 0 0 204
PreventionGenetics 1 1 52 40 40 0 0 0 134
Illumina Clinical Services Laboratory,Illumina 0 0 50 53 14 0 0 0 117
Mendelics 6 3 94 5 1 0 0 0 109
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 8 4 51 6 11 0 0 0 80
University of Washington Department of Laboratory Medicine,University of Washington 6 0 10 63 0 1 0 0 80
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 15 1 9 8 31 0 0 0 64
OMIM 51 0 1 0 0 1 0 0 53
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 15 1 10 2 24 0 0 0 52
ITMI 0 0 0 0 0 0 0 50 50
3DMed Clinical Laboratory Inc 2 0 45 0 0 0 0 0 47
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 38 0 6 0 0 0 44
True Health Diagnostics 0 0 7 31 2 1 0 0 41
Fulgent Genetics 9 1 22 0 1 0 0 0 33
CSER_CC_NCGL; University of Washington Medical Center 0 0 21 7 0 0 0 0 27
GeneKor MSA 3 1 22 0 0 1 0 0 27
Pathway Genomics 9 0 7 2 2 0 0 0 20
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 11 1 6 0 0 0 18
Clinical Genomics Lab,St. Jude Children's Research Hospital 2 0 14 0 0 0 0 0 16
Center for Human Genetics, Inc 7 3 3 1 0 0 0 0 14
Database of Curated Mutations (DoCM) 0 13 0 0 0 0 0 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 5 0 0 0 0 12
Molecular Oncology Laboratory,Hospital Clínico San Carlos 2 0 4 0 0 0 0 0 6
Yale Center for Mendelian Genomics,Yale University 5 0 0 0 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 1 3 0 0 0 0 4
GeneReviews 3 0 0 0 1 0 0 0 4
Genome Sciences Centre,British Columbia Cancer Agency 3 1 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 4
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
National Molecular Genetics Centre of Cancer Research,N.N. Alexandrov National Cancer Centre of Belarus 3 0 0 0 0 0 0 0 3
Department of Molecular Diagnostics,Institute of Oncology 1 2 0 0 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 1 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 0 1
Karsan Lab,BC Cancer Agency 0 0 1 0 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 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 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 0 0 1 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 1 0 0 0 0 0 1
Cancer Diagnostics Division,Gene Solutions 0 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 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 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 0 1 1

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