ClinVar Miner

Variants in gene combination ACTC1, LOC101928174

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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 25 227 99 34 340

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 3 1 60 21 4 89
Familial hypertrophic cardiomyopathy 11 5 3 54 15 10 85
Left ventricular noncompaction cardiomyopathy 0 0 71 14 0 84
not provided 3 16 31 25 10 84
Atrial septal defect 0 0 70 14 0 83
Familial restrictive cardiomyopathy 0 0 70 14 0 83
Dilated cardiomyopathy 1R 3 1 54 17 7 81
not specified 0 0 33 33 11 73
Hypertrophic cardiomyopathy 1 2 46 2 1 50
Dilated Cardiomyopathy, Dominant 0 0 41 2 0 42
Cardiomyopathy 1 1 10 12 4 27
Cardiovascular phenotype 0 0 9 1 1 11
Primary familial hypertrophic cardiomyopathy 1 1 7 1 0 10
Atrial septal defect 5 2 0 0 0 0 2
Primary dilated cardiomyopathy 0 1 1 0 0 2
Primary dilated cardiomyopathy; Left ventricular noncompaction 0 2 0 0 0 2
Wolff-Parkinson-White pattern 0 1 1 0 0 2
Dilated cardiomyopathy 0 0 0 1 0 1
Dilated left ventricle 0 0 1 0 0 1
Inborn genetic diseases 0 1 0 0 0 1
Left ventricular noncompaction 4 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 100 27 10 120
Invitae 3 1 60 39 4 107
GeneDx 3 14 27 29 18 91
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 4 26 13 2 46
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 1 9 7 1 19
Ambry Genetics 0 1 9 1 1 12
OMIM 9 0 0 0 0 9
Blueprint Genetics 1 0 7 1 0 9
Color 0 0 1 6 2 9
Integrated Genetics/Laboratory Corporation of America 1 1 3 1 2 8
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 3 0 1 5
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 4 0 0 5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 3 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 0 0 3
PreventionGenetics,PreventionGenetics 0 0 0 1 2 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 0 1 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 1 0 0 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 2
Mendelics 1 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 1 0 1

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