ClinVar Miner

Variants in gene SMAD4

Minimum submission review status: Collection method:
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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 not provided total
176 37 415 399 45 12 1010

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 47 7 194 229 6 0 477
Juvenile polyposis syndrome 103 11 185 43 4 0 343
not provided 20 9 55 166 21 8 258
not specified 0 0 16 106 24 4 137
Myhre syndrome 5 0 75 47 8 1 135
Hereditary hemorrhagic telangiectasia type 1 0 0 74 47 8 0 129
Juvenile Polyposis 0 0 74 47 8 0 129
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 26 0 1 0 0 0 27
Cardiovascular phenotype 1 1 6 12 1 0 21
Neoplasm of the large intestine 8 7 0 0 0 0 15
Myhre syndrome; Juvenile polyposis syndrome; 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
JP and JP/HHT 6 0 0 0 0 0 6
Adenocarcinoma of prostate 0 5 0 0 0 0 5
Thoracic aortic aneurysm and aortic dissection 0 0 3 1 1 0 5
Carcinoma of pancreas 4 0 0 0 0 0 4
Neoplasm of the breast 0 4 0 0 0 0 4
Squamous cell carcinoma of the head and neck 0 4 0 0 0 0 4
Uterine cervical neoplasms 0 4 0 0 0 0 4
Heritable Thoracic Aortic Disease 0 1 2 0 0 0 3
Inborn genetic diseases 2 0 0 0 0 0 2
Primary pulmonary hypertension 0 0 2 0 0 0 2
Colorectal cancer 0 1 0 0 0 0 1
Gastrointestinal polyposis 0 0 0 1 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
Wilms Tumor 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 47 9 180 180 7 0 423
Ambry Genetics 46 7 150 135 1 0 339
Color 0 1 82 133 6 0 222
GeneDx 18 4 37 97 20 0 176
Illumina Clinical Services Laboratory,Illumina 0 0 74 47 8 0 129
Research and Development, ARUP Laboratories 81 0 0 0 3 0 84
Quest Diagnostics Nichols Institute San Juan Capistrano 2 0 14 14 13 0 39
Integrated Genetics/Laboratory Corporation of America 0 1 10 19 8 0 38
Counsyl 0 0 17 16 0 0 33
University of Washington Department of Laboratory Medicine, University of Washington 2 1 0 22 0 0 25
PreventionGenetics,PreventionGenetics 0 0 2 14 5 0 21
OMIM 17 0 0 0 0 0 17
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 4 3 1 4 5 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 5 8 0 16
Database of Curated Mutations (DoCM) 8 9 0 0 0 0 15
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 5 2 1 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 1 1 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 4 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
True Health Diagnostics 0 0 2 2 0 0 4
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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 1 0 0 0 2
Mendelics 0 1 0 0 1 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
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
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
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
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 1 1

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