ClinVar Miner

Variants in gene ACTA2

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Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
29 33 291 196 30 3 525

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Aortic aneurysm, familial thoracic 6 25 17 170 136 5 1 344
Familial thoracic aortic aneurysm and aortic dissection 7 13 115 80 2 0 210
not provided 10 15 71 37 17 0 144
not specified 0 0 10 16 9 0 34
Multisystemic smooth muscle dysfunction syndrome 4 0 16 5 3 0 28
ACTA2-related condition 2 0 2 8 0 0 12
Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5 2 0 8 1 0 0 11
Moyamoya disease 0 0 4 2 0 0 6
Connective tissue disorder 0 0 1 4 0 0 5
Moyamoya disease 5 3 0 2 0 0 0 5
Familial aortopathy 1 1 0 0 1 0 3
Inborn genetic diseases 0 0 3 0 0 0 3
Isolated thoracic aortic aneurysm 0 1 2 0 0 0 3
Cardiovascular phenotype 0 0 2 0 0 0 2
ACTA2-Related Disorders 1 0 0 0 0 0 1
Aneurysm of descending aorta; Arterial tortuosity 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 2 1 0 0 0 0 0 1
Aortic aneurysm, familial thoracic 6; Congenital aneurysm of ascending aorta; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5; Moyamoya disease 0 0 0 0 0 1 1
Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome 0 0 0 0 0 1 1
Connective tissue dysplasia 0 0 1 0 0 0 1
Descending aortic dissection 1 0 0 0 0 0 1
See cases 1 0 0 0 0 0 1
Thoracic aortic aneurysm 0 0 0 0 1 0 1
alterations of great arteries and veins; Connective tissue disorder 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 21 12 147 138 5 0 323
Color Diagnostics, LLC DBA Color Health 0 2 60 65 2 0 129
GeneDx 9 5 48 41 22 0 125
Ambry Genetics 7 10 58 32 1 0 108
Illumina Laboratory Services, Illumina 1 0 21 6 3 0 24
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 1 2 11 3 2 0 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 5 5 4 0 17
PreventionGenetics, part of Exact Sciences 2 0 2 9 2 0 15
Blueprint Genetics 3 4 7 0 0 0 14
CeGaT Center for Human Genetics Tuebingen 0 1 7 5 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 5 2 1 0 10
Fulgent Genetics, Fulgent Genetics 2 0 7 1 0 0 10
OMIM 9 0 0 0 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 1 3 0 0 0 7
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 1 4 0 0 6
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 0 0 3 0 6
AiLife Diagnostics, AiLife Diagnostics 0 0 6 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 0 0 3 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 4
Baylor Genetics 1 1 1 0 0 0 3
Eurofins Ntd Llc (ga) 0 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 2 0 0 0 3
Department of Vascular Biology, Beijing Anzhen Hospital 0 1 2 0 0 0 3
Clinical Genetics Unit, University of Padua 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 1 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 1 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 0 1 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Tissue and Cell Biology Laboratory, Universidade Estadual do Norte Fluminense Darcy Ribeiro 1 0 0 0 0 0 1
Cohesion Phenomics 0 0 0 0 1 0 1

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