ClinVar Miner

Variants in gene TMEM43

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Minimum submission review status: Collection method:
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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 2 310 171 56 483

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Arrhythmogenic right ventricular cardiomyopathy, type 5 2 0 181 73 19 274
Cardiomyopathy 1 1 154 100 21 271
not provided 1 1 43 31 25 99
not specified 0 0 37 44 29 99
Cardiovascular phenotype 1 0 20 10 11 42
Arrhythmogenic right ventricular cardiomyopathy 1 0 18 1 1 21
none provided 0 0 0 2 9 11
Arrhythmogenic right ventricular dysplasia, type 5 0 0 2 0 0 2
Emery-Dreifuss muscular dystrophy 7, autosomal dominant 2 0 0 0 0 2
Hypertrophic cardiomyopathy 1 0 1 0 0 2
Primary dilated cardiomyopathy 1 0 1 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
Cardiomyopathy, left ventricular noncompaction 0 0 1 0 0 1
Familial isolated arrhythmogenic right ventricular dysplasia 1 0 0 0 0 1
Long QT syndrome 0 0 1 0 0 1
Primary familial hypertrophic cardiomyopathy 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 181 78 18 278
Color Health, Inc 1 0 150 93 20 264
GeneDx 1 1 29 38 31 100
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 25 12 16 54
Ambry Genetics 1 0 20 10 11 42
Integrated Genetics/Laboratory Corporation of America 1 0 13 4 12 30
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
Illumina Clinical Services Laboratory,Illumina 0 0 16 0 0 16
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 4 9 14
Athena Diagnostics Inc 0 0 2 2 3 7
Blueprint Genetics 1 0 5 1 0 7
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 1 2 3 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 2 0 7
PreventionGenetics, PreventionGenetics 0 0 0 1 5 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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 2 0 0 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
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 0 0 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
Loeys Lab,Universiteit Antwerpen 1 0 0 0 0 1

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