ClinVar Miner

Variants in gene ACTN2

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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 7 380 215 103 1 621

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 0 0 186 61 31 0 278
not provided 2 4 104 60 56 0 224
not specified 0 0 63 87 40 0 172
Dilated cardiomyopathy 1AA 3 1 84 23 7 0 112
Cardiomyopathy 0 0 53 24 19 0 95
Dilated Cardiomyopathy, Dominant 0 0 48 18 0 0 66
Cardiovascular phenotype 0 1 24 29 10 0 64
Hypertrophic cardiomyopathy 0 0 13 15 0 0 28
Primary familial hypertrophic cardiomyopathy 0 0 13 0 0 0 13
Familial hypertrophic cardiomyopathy 23 5 0 0 0 0 0 5
Left ventricular noncompaction cardiomyopathy 1 0 2 0 0 0 3
Familial hypertrophic cardiomyopathy 1 0 0 2 0 0 0 2
MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES 2 0 0 0 0 0 2
MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT 2 0 0 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 1 0 0 0 0 1
Congestive heart failure 0 0 0 1 0 0 1
Dilated cardiomyopathy 0 0 1 0 0 0 1
Familial dilated cardiomyopathy 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy; Dilated cardiomyopathy 0 0 0 0 0 1 1
Long QT syndrome 0 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 0 0 1 0 0 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 1 0 0 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: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 186 98 32 0 316
GeneDx 2 2 79 74 85 0 242
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 49 43 22 0 115
Illumina Clinical Services Laboratory,Illumina 0 0 90 24 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 29 10 0 64
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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 13 4 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 10 5 0 0 15
OMIM 11 0 0 0 0 0 11
Integrated Genetics/Laboratory Corporation of America 0 0 1 4 5 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 3 0 6
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 3 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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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