ClinVar Miner

Variants in gene SMAD3

Minimum submission review status: Collection method:
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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 risk factor not provided total
35 32 198 96 24 1 2 354

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Thoracic aortic aneurysm and aortic dissection 15 10 134 76 17 0 0 243
Loeys-Dietz syndrome 0 2 79 39 13 0 0 133
not provided 11 15 50 2 3 0 2 82
Cardiovascular phenotype 3 3 25 16 4 0 0 51
not specified 1 0 6 28 14 0 0 48
Loeys-Dietz syndrome 3 10 1 4 0 0 0 0 14
Connective tissue disorder 2 0 1 3 0 0 0 6
Arterial dissection; Cutaneous polyarteritis nodosa 0 0 1 0 0 0 0 1
Congenital aneurysm of ascending aorta 0 0 0 0 0 1 0 1
Dilatation 0 1 0 0 0 0 0 1
Familial aortopathy 0 0 1 0 0 0 0 1
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 76 39 13 0 0 128
GeneDx 7 12 42 26 14 0 0 101
Invitae 13 6 51 26 4 0 0 100
Ambry Genetics 3 3 25 17 4 0 0 52
Color 1 0 3 21 5 0 0 30
OMIM 10 0 0 0 0 0 0 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 6 0 2 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 0 2 4 0 0 8
PreventionGenetics 0 0 0 3 5 0 0 8
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 5 1 0 0 0 7
Center for Human Genetics, Inc 2 0 1 3 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 4 1 0 0 0 6
Blueprint Genetics, 0 2 3 0 0 0 0 5
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 1 4 0 0 0 0 0 5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 1 0 2 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 3 0 0 4
Stanford Center for Inherited Cardiovascular Disease,Stanford University 2 0 0 0 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 0 2
Seelig Lab,University of Washington 0 0 0 0 0 0 2 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 0 1
Fulgent Genetics 0 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory,Region Ostergotland 0 0 1 0 0 0 0 1
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 0 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 1
Center of Vascular Surgery,The Second Affiliated Hospital of Nanchang University 0 0 0 0 0 1 0 1

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