ClinVar Miner

Variants in gene SMAD3

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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 confers sensitivity risk factor not provided total
122 87 491 326 63 1 1 4 976

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign confers sensitivity risk factor not provided total
Familial thoracic aortic aneurysm and aortic dissection 102 48 381 280 17 0 0 0 777
not provided 14 27 103 70 32 0 0 2 241
Aneurysm-osteoarthritis syndrome 17 19 76 9 11 0 0 1 128
Loeys-Dietz syndrome 0 4 63 33 8 0 0 0 108
not specified 1 0 15 25 16 0 0 0 53
SMAD3-related condition 0 1 3 20 0 0 0 0 24
Ehlers-Danlos syndrome 1 1 11 3 2 0 0 0 18
Connective tissue disorder 2 0 1 3 0 0 0 0 6
Cardiovascular phenotype 0 1 4 0 0 0 0 0 5
Inborn genetic diseases 0 0 5 0 0 0 0 0 5
Congenital aneurysm of ascending aorta 1 0 0 0 0 0 1 0 2
Familial aortopathy 0 1 1 0 0 0 0 0 2
Isolated thoracic aortic aneurysm 0 1 1 0 0 0 0 0 2
See cases 0 0 2 0 0 0 0 0 2
Thoracic aortic aneurysm 0 0 0 0 2 0 0 0 2
Aortic aneurysm, familial thoracic 6 0 0 1 0 0 0 0 0 1
Arterial dissection; Cutaneous polyarteritis nodosa 0 0 1 0 0 0 0 0 1
Ascending aortic dissection 1 0 0 0 0 0 0 0 1
Coronary artery disorder 0 0 0 0 1 0 0 0 1
Lung cancer 0 0 0 0 0 1 0 0 1
SMAD3-Related Disorder 0 0 0 0 0 0 0 1 1
Vascular dilatation 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign confers sensitivity risk factor not provided total
Invitae 93 22 209 198 12 0 0 0 534
GeneDx 9 20 79 67 41 0 0 0 216
Color Diagnostics, LLC DBA Color Health 3 4 83 116 5 0 0 0 211
Ambry Genetics 14 11 71 57 4 0 0 0 157
Illumina Laboratory Services, Illumina 0 0 96 38 11 0 0 0 140
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 2 12 16 12 4 0 0 0 46
CeGaT Center for Human Genetics Tuebingen 1 4 6 19 2 0 0 0 32
PreventionGenetics, part of Exact Sciences 0 1 3 23 4 0 0 0 31
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 12 3 11 0 0 0 28
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 5 7 5 0 0 0 19
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 1 11 3 2 0 0 0 18
Fulgent Genetics, Fulgent Genetics 1 0 13 0 0 0 0 0 14
Blueprint Genetics 1 4 8 0 0 0 0 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 3 3 3 0 0 0 11
OMIM 10 0 0 0 0 0 0 0 10
Eurofins Ntd Llc (ga) 2 0 5 0 2 0 0 0 9
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 3 2 3 0 0 0 9
Genetics Department, University Hospital of Toulouse 5 3 0 0 0 0 0 0 8
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 0 1 3 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 3 2 0 0 0 0 0 6
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 2 2 0 2 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 3 1 1 0 0 0 6
AiLife Diagnostics, AiLife Diagnostics 0 0 6 0 0 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 1 3 0 0 0 5
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 1 4 0 0 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 2 0 0 0 4
Institute of Human Genetics, Cologne University 0 2 2 0 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 1 3 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 0 0 0 0 0 4
MGZ Medical Genetics Center 0 1 2 0 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 0 0 2
Mendelics 0 1 0 0 1 0 0 0 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 2 0 0 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 1 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 0 0 2
Seelig Lab, University of Washington 0 0 0 0 0 0 0 2 2
deCODE genetics, Amgen 0 2 0 0 0 0 0 0 2
Department of Vascular Biology, Beijing Anzhen Hospital 0 1 1 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 0 0 2
Cohesion Phenomics 0 0 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 0 0 1 0 0 0 0 0 1
Center of Vascular Surgery, The Second Affiliated Hospital of Nanchang University 0 0 0 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 0 0 1
Cardiovascular Genetics and the Laboratory of Forensic Genetics, Cyprus Institute of Neurology and Genetics 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 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 0 1
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory 0 0 0 0 1 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 0 0 0 0 0 1
Heart Medical Centre, First Affiliated Hospital of Gannan Medical University 1 0 0 0 0 0 0 0 1

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