ClinVar Miner

Variants in gene combination ACTC1, GJD2-DT

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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
14 27 264 135 42 425

Condition and significance breakdown #

Total conditions: 23
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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 5 1 92 37 4 139
Cardiomyopathy 1 1 31 71 4 105
not specified 0 0 38 38 19 91
not provided 3 16 31 27 10 86
Familial hypertrophic cardiomyopathy 11 5 3 54 15 10 85
Dilated cardiomyopathy 1R 3 2 54 17 7 82
Hypertrophic cardiomyopathy 1 2 46 2 1 50
Cardiomyopathy, left ventricular noncompaction 0 0 42 1 0 42
Dilated Cardiomyopathy, Dominant 0 0 41 2 0 42
Atrial septal defect 0 0 41 1 0 41
Familial restrictive cardiomyopathy 0 0 41 1 0 41
Cardiovascular phenotype 0 0 9 1 1 11
Primary familial hypertrophic cardiomyopathy 1 1 7 1 0 10
Primary dilated cardiomyopathy 0 2 1 1 0 4
Atrial septal defect 5 2 1 0 0 0 3
Dilated cardiomyopathy 1A 0 0 2 0 0 2
Wolff-Parkinson-White pattern 0 1 1 0 0 2
none provided 0 0 0 1 1 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
Primary dilated cardiomyopathy; Left ventricular noncompaction 0 1 0 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 1 92 45 4 147
Illumina Clinical Services Laboratory,Illumina 0 0 95 20 10 120
Color Health, Inc 0 0 22 68 2 92
GeneDx 3 14 27 29 18 91
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 4 26 13 2 46
Integrated Genetics/Laboratory Corporation of America 1 1 8 6 11 27
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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 5 0 0 6
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 2 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
Baylor Genetics 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 1 2
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 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
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 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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