ClinVar Miner

Variants in gene SMAD4

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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 not provided total
203 47 647 442 80 12 1313

Condition and significance breakdown #

Total conditions: 43
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 47 7 234 269 6 0 557
Generalized juvenile polyposis/juvenile polyposis coli 100 14 239 95 48 0 483
Juvenile polyposis syndrome 44 6 237 120 0 0 407
Myhre syndrome 5 0 147 15 49 1 216
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 28 3 128 18 28 0 204
not provided 22 10 61 80 20 8 184
not specified 0 0 21 111 27 4 146
Hereditary hemorrhagic telangiectasia type 1 0 0 27 8 3 0 38
Juvenile Polyposis 0 0 27 8 3 0 38
Cardiovascular phenotype 1 1 5 13 1 0 21
Neoplasm of the large intestine 8 7 0 0 0 0 15
Myhre syndrome; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas 3 0 7 0 0 0 10
Adenocarcinoma of stomach 0 9 0 0 0 0 9
Carcinoma of esophagus 0 9 0 0 0 0 9
Lung adenocarcinoma 0 9 0 0 0 0 9
Pancreatic adenocarcinoma 0 9 0 0 0 0 9
none provided 1 0 4 1 3 0 9
Familial thoracic aortic aneurysm and aortic dissection 0 0 3 2 1 0 6
JP and JP/HHT 6 0 0 0 0 0 6
Adenocarcinoma of prostate 0 5 0 0 0 0 5
Carcinoma of pancreas 4 0 1 0 0 0 5
Breast neoplasm 0 4 0 0 0 0 4
Carcinoma of colon 2 0 0 2 0 0 4
Neoplasm of uterine cervix 0 4 0 0 0 0 4
Squamous cell carcinoma of the head and neck 0 4 0 0 0 0 4
Heritable Thoracic Aortic Disease 0 1 2 0 0 0 3
Abnormal bleeding; Thrombocytopenia 1 0 1 0 0 0 2
Colorectal cancer 1 1 0 0 0 0 2
Early age onset of sporadic thoracic aortic dissections 0 0 2 0 0 0 2
Inborn genetic diseases 2 0 0 0 0 0 2
Malignant tumor of breast 0 0 0 2 0 0 2
Primary pulmonary hypertension 1 0 0 2 0 0 0 2
Gallbladder cancer 1 0 0 0 0 0 1
Gastrointestinal polyposis 0 0 0 1 0 0 1
Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia 0 1 0 0 0 0 1
Intellectual disability 1 0 0 0 0 0 1
Isolated thoracic aortic aneurysm 0 0 1 0 0 0 1
JP, JP/HHT, and HHT 1 0 0 0 0 0 1
Juvenile polyposis of stomach 1 0 0 0 0 0 1
Moyamoya angiopathy 0 1 0 0 0 0 1
Myhre syndrome; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 1 0 0 0 0 0 1
Nephroblastoma 0 0 1 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 78 14 327 231 7 0 656
Ambry Genetics 46 7 148 137 1 0 339
Color Health, Inc 0 1 138 194 6 0 339
Illumina Clinical Services Laboratory,Illumina 0 0 154 33 49 0 210
GeneDx 18 4 37 97 20 0 176
Research and Development, ARUP Laboratories 81 0 0 0 3 0 84
Integrated Genetics/Laboratory Corporation of America 1 4 14 23 10 0 52
Quest Diagnostics Nichols Institute San Juan Capistrano 3 0 17 15 14 0 45
Counsyl 0 0 17 16 0 0 33
University of Washington Department of Laboratory Medicine, University of Washington 2 1 0 22 1 0 26
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 7 6 8 0 22
PreventionGenetics, PreventionGenetics 0 0 2 14 5 0 21
OMIM 17 0 0 0 0 0 17
Mayo Clinic Laboratories, Mayo Clinic 4 3 1 4 5 0 17
Database of Curated Mutations (DoCM) 8 9 0 0 0 0 15
Department of Pathology and Laboratory Medicine,Sinai Health System 2 0 5 6 0 0 13
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 5 2 1 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 2 6 0 0 10
Fulgent Genetics,Fulgent Genetics 2 0 7 0 0 0 9
GeneReviews 7 0 0 0 0 0 7
UniProtKB/Swiss-Prot 0 0 0 0 0 7 7
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 3 2 1 0 6
NIHR Bioresource Rare Diseases, University of Cambridge 2 2 0 1 0 0 5
Unit U781; INSERM (Institut National de la Santé Et de la Recherche Médicale) 4 0 0 0 0 0 4
ITMI 0 0 0 0 0 4 4
University of Washington Center for Mendelian Genomics, University of Washington 0 2 2 0 0 0 4
True Health Diagnostics 0 0 2 2 0 0 4
Baylor Genetics 2 1 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 0 3
Department of Internal Medicine, The University of Texas McGovern Medical School,The University of Texas Health Science Center at Houston 0 1 2 0 0 0 3
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 2 0 0 0 2
Mendelics 0 1 0 0 1 0 2
Birmingham Platelet Group; University of Birmingham 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Medical & Molecular Genetics Group,University of Lincoln 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Brunetti-Pierri's lab TIGEM 0 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 0 1
Pathway Genomics 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 0 1
GeneKor MSA 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 0 0 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 1 1
Institute of Medical Sciences, Banaras Hindu University 1 0 0 0 0 0 1
Genomic Center,National Cancer Institute 1 0 0 0 0 0 1
Shieh Lab,University of California, San Francisco 1 0 0 0 0 0 1
Department of Vascular Biology,Beijing Anzhen Hospital 0 0 1 0 0 0 1

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