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
12 23 175 65 15 262

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hypertrophic cardiomyopathy 0 0 72 14 0 85
Left ventricular noncompaction cardiomyopathy 0 0 71 14 0 84
Atrial septal defect 0 0 70 14 0 83
Dilated Cardiomyopathy, Dominant 0 0 70 14 0 83
Familial restrictive cardiomyopathy 0 0 70 14 0 83
not specified 0 0 35 32 11 74
Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 1 1 34 18 3 57
not provided 3 16 30 0 0 48
Cardiomyopathy 1 2 8 11 4 25
Cardiovascular phenotype 0 0 9 1 1 11
Primary familial hypertrophic cardiomyopathy 1 2 6 1 0 10
Familial hypertrophic cardiomyopathy 11 5 2 0 0 0 6
Dilated cardiomyopathy 1R 3 1 0 0 0 3
Atrial septal defect 5 2 0 0 0 0 2
Primary dilated cardiomyopathy 0 1 1 0 0 2
Wolff-Parkinson-White pattern 0 1 1 0 0 2
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: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 70 14 0 83
GeneDx 3 14 27 22 8 74
Invitae 1 1 34 18 3 57
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 3 27 13 2 46
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 1 7 5 1 15
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 4 0 2 8
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 1 4 0 0 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 0 0 3
PreventionGenetics 0 0 0 1 2 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 2 0 0 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
Mendelics 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1

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