ClinVar Miner

Variants in gene SMAD4

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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 association not provided total
271 122 1302 1007 476 1 44 2622

Condition and significance breakdown #

Total conditions: 56
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Juvenile polyposis syndrome 163 41 680 696 32 0 0 1591
Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 100 20 548 414 11 0 0 1093
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 55 27 286 249 397 0 0 900
Hereditary cancer-predisposing syndrome 13 4 240 294 13 0 0 544
not provided 37 14 214 106 50 0 10 393
not specified 0 0 55 159 37 0 4 228
Generalized juvenile polyposis/juvenile polyposis coli 15 8 135 8 43 0 3 208
Myhre syndrome 7 2 122 7 51 0 4 188
SMAD4-related disorder 5 1 16 28 0 0 0 50
Neoplasm 3 17 10 0 0 0 0 30
Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Familial pancreatic carcinoma; Juvenile polyposis syndrome 0 2 16 2 0 0 0 20
Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas; Juvenile polyposis syndrome 1 1 13 2 0 0 0 17
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 11 11
Familial thoracic aortic aneurysm and aortic dissection 0 1 5 3 1 0 0 10
Myhre syndrome; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas 3 0 6 0 0 0 0 9
Colorectal cancer 4 4 0 0 0 0 0 8
Acute myeloid leukemia 0 0 0 0 0 0 5 5
Carcinoma of pancreas 4 0 1 0 0 0 0 5
Lung cancer 0 0 0 0 0 1 4 5
Carcinoma of colon 2 0 0 2 0 0 0 4
Malignant tumor of esophagus 0 0 0 0 0 0 4 4
Gastric cancer 2 0 0 0 0 0 1 3
Heritable Thoracic Aortic Disease 0 1 2 0 0 0 0 3
Abnormal bleeding; Thrombocytopenia 1 0 1 0 0 0 0 2
Colon adenocarcinoma 0 0 0 0 0 0 2 2
Early age onset of sporadic thoracic aortic dissections 0 0 2 0 0 0 0 2
Familial cancer of breast 0 0 0 0 0 0 2 2
Intellectual disability 2 0 0 0 0 0 0 2
Malignant tumor of breast 0 0 0 2 0 0 0 2
Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Juvenile polyposis syndrome 0 0 0 0 0 0 2 2
Pulmonary hypertension, primary, 1 0 0 2 0 0 0 0 2
Thymoma 0 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 2 2
Cardiovascular phenotype 0 0 1 0 0 0 0 1
Cervical cancer 0 0 0 0 0 0 1 1
Familial aortopathy 1 0 0 0 0 0 0 1
Familial pancreatic carcinoma 0 0 1 0 0 0 0 1
Familial renal glucosuria 1 0 0 0 0 0 0 1
Gallbladder cancer 1 0 0 0 0 0 0 1
Gastrointestinal polyposis 0 0 0 1 0 0 0 1
Generalized juvenile polyposis/juvenile polyposis coli; Hereditary hemorrhagic telangiectasia 0 0 0 0 0 0 1 1
Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia 0 1 0 0 0 0 0 1
Isolated thoracic aortic aneurysm 0 0 1 0 0 0 0 1
Juvenile polyposis of stomach 1 0 0 0 0 0 0 1
Malignant tumor of pancreas 1 0 0 0 0 0 0 1
Moyamoya angiopathy 0 1 0 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 0 1
Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 0 0 0 0 0 1 1
Nephroblastoma 0 0 1 0 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 0 1
Pulmonary arterial hypertension 0 0 1 0 0 0 0 1
Sarcoma 0 0 0 0 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 0 1 1
Vascular dementia 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 129
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 165 35 667 694 29 0 0 1589
Ambry Genetics 101 22 551 414 11 0 0 1099
Myriad Genetics, Inc. 41 13 15 127 373 0 0 569
Color Diagnostics, LLC DBA Color Health 8 1 210 267 7 0 0 493
GeneDx 23 6 149 117 38 0 0 333
All of Us Research Program, National Institutes of Health 2 0 113 108 0 0 0 223
Illumina Laboratory Services, Illumina 1 0 127 25 46 0 0 173
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 8 34 48 17 0 0 113
Quest Diagnostics Nichols Institute San Juan Capistrano 6 2 44 27 21 0 0 100
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 4 18 23 48 6 0 0 99
Baylor Genetics 3 6 61 0 0 0 0 70
PreventionGenetics, part of Exact Sciences 4 1 18 41 5 0 0 69
Sema4, Sema4 0 0 30 28 8 0 0 66
CeGaT Center for Human Genetics Tuebingen 7 1 7 32 5 0 0 52
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 0 13 14 8 0 0 39
Department of Pathology and Laboratory Medicine, Sinai Health System 4 1 16 18 0 0 0 39
Fulgent Genetics, Fulgent Genetics 2 2 29 2 0 0 0 35
Mayo Clinic Laboratories, Mayo Clinic 8 3 9 10 5 0 0 35
Counsyl 0 0 17 16 0 0 0 33
Breakthrough Genomics, Breakthrough Genomics 0 0 9 6 14 0 0 29
University of Washington Department of Laboratory Medicine, University of Washington 2 3 0 22 1 0 0 28
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 26 26
OMIM 18 0 0 0 0 0 0 18
Genetic Services Laboratory, University of Chicago 0 1 3 6 5 0 0 15
Eurofins Ntd Llc (ga) 2 0 5 2 1 0 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 7 1 0 0 10
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 5 3 1 0 0 9
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 4 2 0 0 8
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 8 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 7 0 0 0 7
GeneReviews 0 0 0 0 0 0 7 7
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 6 0 0 0 0 7
Molecular Pathology, Peter Maccallum Cancer Centre 1 0 4 2 0 0 0 7
Revvity Omics, Revvity 2 0 5 0 0 0 0 7
UniProtKB/Swiss-Prot 0 0 0 0 0 0 7 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 3 0 0 0 0 7
Clinical Genetics, Academic Medical Center 0 0 0 3 3 0 0 6
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 1 2 3 0 0 6
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 6 0 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 3 1 0 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 5 0 0 0 0 0 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 3 1 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 2 2 0 1 0 0 0 5
AiLife Diagnostics, AiLife Diagnostics 0 0 4 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 4 4
ITMI 0 0 0 0 0 0 4 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 1 0 0 0 0 4
MGZ Medical Genetics Center 1 2 1 0 0 0 0 4
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 1 1 2 0 0 0 4
True Health Diagnostics 0 0 2 2 0 0 0 4
Unit U781; INSERM (Institut National de la Santé Et de la Recherche Médicale) 4 0 0 0 0 0 0 4
University of Washington Center for Mendelian Genomics, University of Washington 0 2 2 0 0 0 0 4
3billion 3 0 0 0 0 0 0 3
Department of Clinical Biochemistry, Naestved Hospital 0 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 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 0 3
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 0 0 2 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 1 0 0 0 0 3
Mendelics 0 1 1 0 1 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 2 0 0 0 0 2
Birmingham Platelet Group; University of Birmingham 1 0 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 1 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 0 2
Laboratory for Genotyping Development, RIKEN 2 0 0 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 2 2
Rare Disease Genomics Group, St George's University of London 0 0 2 0 0 0 0 2
Variantyx, Inc. 0 2 0 0 0 0 0 2
Academic Department of Medical Genetics, University of Cambridge 0 0 1 0 0 0 0 1
Brunetti-Pierri's lab TIGEM 0 0 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 0 0 0 0 0 0 1
Department of Vascular Biology, Beijing Anzhen Hospital 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 1 0 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 1
GeneKor MSA 0 0 1 0 0 0 0 1
Genomic Center, National Cancer Institute 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 0 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Institute of Medical Sciences, Banaras Hindu University 1 0 0 0 0 0 0 1
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine 0 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Kong Lab, Department of Radiation Oncology, Case Western Reserve University School of Medicine 0 0 0 0 0 1 0 1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 1 0 0 0 0 0 0 1
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 0 0 1 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
Myllykangas group, University of Helsinki 0 0 1 0 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 0 0 0 0 0 0 1
Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 0 1
Pathway Genomics 1 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 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 1
Seelig Lab, University of Washington 0 0 0 0 0 0 1 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 0 1
Shieh Lab, University of California, San Francisco 1 0 0 0 0 0 0 1
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 0 0 1 0 0 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 0 0 1

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