ClinVar Miner

Variants in gene ACTA2

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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 total
13 17 101 40 14 164

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Aortic aneurysm, familial thoracic 6 10 3 44 11 2 69
not provided 10 12 34 5 5 63
Thoracic aortic aneurysm and aortic dissection 4 5 20 10 2 36
Cardiovascular phenotype 4 3 19 2 1 29
not specified 0 0 3 18 6 27
Multisystemic smooth muscle dysfunction syndrome 1 0 12 2 0 15
Moyamoya disease 0 0 12 2 0 14
Connective tissue disorder 0 0 1 4 0 5
Familial aortopathy 2 1 0 0 1 4
Moyamoya disease 5 3 0 0 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 disorder 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 9 7 25 22 10 73
Invitae 9 2 44 11 2 68
Ambry Genetics 4 3 19 3 1 30
Illumina Clinical Services Laboratory,Illumina 1 0 12 2 0 15
Blueprint Genetics, 3 4 7 0 0 14
Color 0 1 4 7 2 14
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 2 3 0 0 7
OMIM 6 0 0 0 0 6
Center for Human Genetics, Inc 1 0 1 4 0 6
Integrated Genetics/Laboratory Corporation of America 2 1 0 1 2 6
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 2 1 1 1 5
PreventionGenetics 0 0 0 1 2 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 0 0 3
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 0 0 0 1

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