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
157 35 350 328 35 12 844

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 33 5 144 192 6 0 376
Juvenile polyposis syndrome 95 10 142 113 8 0 362
Myhre syndrome 5 0 75 47 8 1 135
not specified 0 0 20 98 20 4 130
Juvenile Polyposis 0 0 74 47 8 0 129
Osler hemorrhagic telangiectasia syndrome 0 0 74 47 8 0 129
not provided 19 8 54 25 11 8 110
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 26 0 1 0 0 0 27
Cardiovascular phenotype 0 2 6 13 0 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: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 37 8 137 106 6 0 294
Color 0 1 82 133 6 0 222
Ambry Genetics 31 6 92 84 0 0 213
GeneDx 18 4 37 91 14 0 164
Illumina Clinical Services Laboratory,Illumina 0 0 74 47 8 0 129
ARUP Institute,ARUP Laboratories 81 0 0 0 3 0 84
Integrated Genetics/Laboratory Corporation of America 0 1 21 9 7 0 38
Counsyl 0 0 17 16 0 0 33
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 6 13 10 0 26
University of Washington Department of Laboratory Medicine,University of Washington 2 1 0 22 0 0 25
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
Database of Curated Mutations (DoCM) 8 9 0 0 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 5 3 0 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 5 2 1 0 10
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
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/Human Development Section,National Institutes of Health 0 0 2 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 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
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 Medical Center 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 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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