ClinVar Miner

Variants in gene ACTN2

Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
14 11 466 245 107 2 734

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 0 1 289 109 31 0 430
not provided 2 4 106 64 56 1 231
not specified 0 0 65 96 46 0 184
Dilated cardiomyopathy 1AA 3 1 88 23 7 0 116
Cardiomyopathy 0 0 53 24 19 0 95
Cardiovascular phenotype 0 1 23 30 10 0 64
Hypertrophic cardiomyopathy 0 0 14 15 0 0 29
Primary familial hypertrophic cardiomyopathy 0 0 13 0 0 0 13
Familial hypertrophic cardiomyopathy 23 5 0 0 0 0 0 5
Dilated Cardiomyopathy, Dominant 0 0 3 1 0 0 4
none provided 0 0 0 1 3 0 4
Cardiomyopathy, left ventricular noncompaction 1 0 2 0 0 0 3
Familial hypertrophic cardiomyopathy 1 0 0 3 0 0 0 3
Myopathy, distal, 6, adult-onset, autosomal dominant 2 1 2 0 0 0 3
Myopathy, congenital, with structured cores and z-line abnormalities 2 2 0 0 0 0 2
Primary dilated cardiomyopathy 0 0 1 1 0 0 2
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 1 0 0 0 0 1 2
ACTN2-related disorders 1 0 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 1 0 0 0 0 1
Congestive heart failure 0 0 0 1 0 0 1
Dilated cardiomyopathy 1A 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Left ventricular noncompaction 1 0 0 1 0 0 0 1
Long QT syndrome 0 0 0 1 0 0 1
Primary familial dilated cardiomyopathy 0 0 1 0 0 0 1
Syncope; Hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Tetralogy of Fallot 0 0 1 0 0 0 1
Ventricular fibrillation 0 0 1 0 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 1 289 132 32 0 454
GeneDx 2 2 79 74 85 0 242
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 48 44 24 0 117
Illumina Clinical Services Laboratory,Illumina 0 0 87 22 2 0 111
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 49 21 18 0 88
Ambry Genetics 0 1 24 30 10 0 65
Integrated Genetics/Laboratory Corporation of America 0 0 4 12 17 0 33
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 16 7 2 0 27
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 4 17 3 0 24
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 14 3 2 0 19
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 11 8 0 0 19
Blueprint Genetics 0 0 18 0 0 0 18
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 17 0 0 0 17
OMIM 11 0 0 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 2 4 0 8
PreventionGenetics, PreventionGenetics 0 0 0 0 5 0 5
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 2 3 0 0 5
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 4 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 1 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 0 0 0 2
Center for Human Genetics,University of Leuven 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 2 0 2
Klaassen Lab,Charite University Medicine Berlin 1 0 1 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 0 1
Mendelics 0 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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