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
47 40 214 136 36 1 4 439

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Thoracic aortic aneurysm and aortic dissection 23 9 150 63 16 0 0 254
not provided 11 18 55 74 13 0 2 167
Loeys-Dietz syndrome 0 3 79 39 13 0 0 134
Cardiovascular phenotype 3 5 23 16 4 0 0 51
not specified 1 0 6 28 14 0 0 48
Loeys-Dietz syndrome 3 15 5 9 0 4 0 1 32
Connective tissue disorder 2 0 1 3 0 0 0 6
Arterial dissection; Cutaneous polyarteritis nodosa 0 0 1 0 0 0 0 1
Ascending aortic dissection 1 0 0 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
SMAD3-Related Disorder 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 22 4 68 66 4 0 0 163
GeneDx 7 13 42 42 25 0 0 129
Illumina Clinical Services Laboratory,Illumina 0 0 76 39 13 0 0 128
Ambry Genetics 3 5 23 17 4 0 0 52
Color 1 0 3 21 5 0 0 30
Blueprint Genetics 1 4 8 0 0 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 3 2 5 0 0 12
OMIM 10 0 0 0 0 0 0 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 6 0 2 0 0 10
PreventionGenetics,PreventionGenetics 0 0 0 3 5 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 6 1 0 0 0 8
Genetics Department, University Hospital of Toulouse 5 3 0 0 0 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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 2 0 0 3 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
Mendelics 0 1 0 0 1 0 0 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 2 0 0 0 0 0 0 2
GenomeConnect, ClinGen 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 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,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 of Vascular Surgery,The Second Affiliated Hospital of Nanchang University 0 0 0 0 0 1 0 1
Cardiovascular Genetics and the Laboratory of Forensic Genetics,Cyprus Institute of Neurology and Genetics 1 0 0 0 0 0 0 1

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