ClinVar Miner

Variants in gene ACTA2

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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 total
16 21 170 83 17 275

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Aortic aneurysm, familial thoracic 6 10 6 92 27 2 132
Familial thoracic aortic aneurysm and aortic dissection 5 4 52 49 2 110
not provided 10 13 37 18 5 80
not specified 0 0 9 19 7 35
Cardiovascular phenotype 5 4 17 2 1 29
Multisystemic smooth muscle dysfunction syndrome 5 0 15 5 3 28
Moyamoya disease 0 0 4 2 0 6
Connective tissue disease 0 0 1 4 0 5
Moyamoya disease 5 3 0 1 0 0 4
Familial aortopathy 1 1 0 0 1 3
Isolated thoracic aortic aneurysm 0 1 2 0 0 3
ACTA2-Related Disorders 1 0 0 0 0 1
Aneurysm of descending aorta; Arterial tortuosity 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 2 1 0 0 0 0 1
Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5 1 0 0 0 0 1
alterations of great arteries and veins; Connective tissue disease 1 0 0 0 0 1
none provided 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 9 5 73 34 2 123
Color Health, Inc 0 1 41 47 2 91
GeneDx 9 7 25 22 10 73
Ambry Genetics 5 4 17 3 1 30
Illumina Clinical Services Laboratory,Illumina 1 0 21 6 3 24
Blueprint Genetics 3 4 7 0 0 14
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 2 5 3 2 12
Integrated Genetics/Laboratory Corporation of America 2 1 4 2 2 11
OMIM 9 0 0 0 0 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 1 3 0 0 7
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 0 1 4 0 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 0 1 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 1 0 4
PreventionGenetics, PreventionGenetics 0 0 0 1 2 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 2 0 0 3
Department of Vascular Biology,Beijing Anzhen Hospital 0 1 2 0 0 3
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 1 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 2
Baylor Genetics 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Mendelics 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 0 0 1 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1

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