ClinVar Miner

Variants in gene SMAD3

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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
61 55 323 181 36 1 4 598

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Familial thoracic aortic aneurysm and aortic dissection 40 22 237 148 11 0 0 439
not provided 11 19 57 54 11 0 2 151
Loeys-Dietz syndrome 0 3 63 34 10 0 0 110
Loeys-Dietz syndrome 3 15 9 57 4 14 0 1 98
not specified 1 0 10 28 14 0 0 52
Cardiovascular phenotype 4 5 21 17 4 0 0 51
Connective tissue disease 2 0 1 3 0 0 0 6
Familial aortopathy 0 1 1 0 0 0 0 2
Isolated thoracic aortic aneurysm 0 1 1 0 0 0 0 2
Aortic aneurysm, familial thoracic 6 0 0 1 0 0 0 0 1
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
SMAD3-Related Disorder 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 38 14 117 74 4 0 0 247
Color Health, Inc 4 0 62 94 6 0 0 166
Illumina Clinical Services Laboratory,Illumina 0 0 99 39 14 0 0 147
GeneDx 7 13 42 42 25 0 0 129
Ambry Genetics 4 5 21 18 4 0 0 52
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 4 12 1 0 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 4 2 5 0 0 13
Blueprint Genetics 1 4 8 0 0 0 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 7 3 0 0 0 12
OMIM 10 0 0 0 0 0 0 10
Integrated Genetics/Laboratory Corporation of America 0 1 3 0 6 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
Genetics Department, University Hospital of Toulouse 5 3 0 0 0 0 0 8
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 0 1 3 0 0 0 6
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 2 0 2 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 1 0 0 0 0 3
Institute of Human Genetics,Cologne University 0 1 1 0 0 0 0 2
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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 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
Department of Vascular Biology,Beijing Anzhen Hospital 0 1 1 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 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
Clinical Genetics Laboratory,Region Ostergotland 0 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 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 1

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