ClinVar Miner

Variants in gene ACTN2

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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
9 6 285 150 49 429

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 0 0 124 54 27 205
not specified 0 0 63 86 38 171
not provided 2 4 88 2 5 100
Hypertrophic cardiomyopathy 0 0 51 18 0 69
Dilated Cardiomyopathy, Dominant 0 0 48 18 0 66
Cardiovascular phenotype 0 1 28 25 10 64
Cardiomyopathy 1 0 37 12 9 59
Dilated cardiomyopathy 1AA 3 0 7 17 5 30
Primary familial hypertrophic cardiomyopathy 0 0 11 0 0 11
Familial hypertrophic cardiomyopathy 23 5 0 0 0 0 5
Familial hypertrophic cardiomyopathy 1 0 0 2 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 1 0 0 0 1
Dilated cardiomyopathy 0 0 1 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 0 0 1 0 1
Syncope; Hypertrophic cardiomyopathy 0 0 1 0 0 1
Tetralogy of Fallot 0 0 1 0 0 1
Ventricular fibrillation 0 0 1 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 124 54 27 205
GeneDx 2 2 79 59 34 176
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 49 43 21 114
Illumina Clinical Services Laboratory,Illumina 0 0 48 18 0 66
Ambry Genetics 0 1 28 25 10 64
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 36 10 8 54
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 4 17 3 24
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 14 3 2 19
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 17 0 0 17
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 8 1 0 11
Integrated Genetics/Laboratory Corporation of America 0 0 1 4 5 10
OMIM 7 0 0 0 0 7
Blueprint Genetics, 0 0 7 0 0 7
PreventionGenetics 0 0 0 0 5 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 2 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 0 0 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 2 0 0 2
Center for Human Genetics,University of Leuven 0 0 2 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 2 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Fulgent Genetics 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 1 0 0 1
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1

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