ClinVar Miner

Variants in gene TMEM43

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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
4 2 206 122 52 333

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Arrhythmogenic right ventricular cardiomyopathy, type 5 2 0 101 43 19 163
not provided 1 1 43 31 25 99
not specified 0 0 31 44 24 91
Cardiomyopathy 0 1 26 20 15 58
Arrhythmogenic right ventricular cardiomyopathy 1 0 46 9 1 56
Cardiovascular phenotype 1 0 21 9 11 42
Emery-Dreifuss muscular dystrophy 7, autosomal dominant 2 0 0 0 0 2
Sudden cardiac arrest 0 0 0 0 2 2
Arrhythmogenic right ventricular cardiomyopathy, type 5; Emery-Dreifuss muscular dystrophy 7, autosomal dominant 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 1 0 0 0 0 1
Hypertrophic cardiomyopathy 0 0 1 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 1
Long QT syndrome 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 1
Primary familial hypertrophic cardiomyopathy 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 100 57 18 176
GeneDx 1 1 29 38 31 100
Illumina Clinical Services Laboratory,Illumina 0 0 46 9 0 55
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 26 13 13 53
Ambry Genetics 1 0 21 9 11 42
Color 0 0 16 12 14 42
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 7 8 6 21
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 9 2 6 17
Integrated Genetics/Laboratory Corporation of America 1 0 4 3 7 15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 4 7
Blueprint Genetics 1 0 5 1 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 2 0 7
Athena Diagnostics Inc 0 0 2 2 2 6
PreventionGenetics,PreventionGenetics 0 0 0 1 5 6
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 1 2 2 6
Genetic Services Laboratory, University of Chicago 0 0 1 0 4 5
OMIM 4 0 0 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 4 4
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 0 3 0 0 4
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 0 2 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Mendelics 0 0 0 0 1 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 0 0 1
Heart Center,Academic Medical Center Amsterdam 1 0 0 0 0 1
Klaassen Lab,Charite University Medicine Berlin 0 0 1 0 0 1

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