ClinVar Miner

Variants in gene TMEM43

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Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
5 5 527 374 100 1 879

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Arrhythmogenic right ventricular dysplasia 5 2 2 349 240 28 1 620
Cardiomyopathy 1 1 225 130 21 0 371
Cardiovascular phenotype 1 0 112 80 28 0 221
not provided 1 1 88 71 58 0 199
not specified 0 0 44 47 41 0 111
Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, autosomal dominant 3 0 0 43 7 5 0 55
Arrhythmogenic right ventricular cardiomyopathy 1 0 19 1 1 0 22
Emery-Dreifuss muscular dystrophy 7, autosomal dominant 2 0 1 0 3 0 6
Inborn genetic diseases 0 0 2 1 0 0 3
TMEM43-related condition 0 0 3 0 0 0 3
Auditory neuropathy, autosomal dominant 3 1 1 1 0 0 0 2
Hypertrophic cardiomyopathy 1 0 1 0 0 0 2
Primary dilated cardiomyopathy 1 0 1 0 0 0 2
Sudden cardiac arrest 0 0 0 0 2 0 2
Benign scapuloperoneal muscular dystrophy with cardiomyopathy 0 0 1 0 0 0 1
Familial isolated arrhythmogenic right ventricular dysplasia 1 0 0 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 0 1
Long QT syndrome 0 0 1 0 0 0 1
Primary familial hypertrophic cardiomyopathy 0 0 0 1 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 1 347 240 27 0 616
Color Diagnostics, LLC DBA Color Health 1 0 221 122 20 0 364
Ambry Genetics 1 0 114 81 28 0 224
GeneDx 1 1 62 56 57 0 177
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 21 14 20 0 56
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 25 12 16 0 54
Fulgent Genetics, Fulgent Genetics 0 0 42 7 5 0 54
Clinical Genetics, Academic Medical Center 0 0 3 6 27 0 36
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 1 0 10 9 7 0 27
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 2 15 10 0 27
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 12 13 0 27
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 2 14 9 0 25
CeGaT Center for Human Genetics Tuebingen 1 0 5 8 7 0 21
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 9 2 6 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 4 10 0 17
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 13 3 0 17
Illumina Laboratory Services, Illumina 0 0 16 0 0 0 16
Revvity Omics, Revvity Omics 0 0 10 1 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 11 0 0 0 11
Athena Diagnostics Inc 0 0 3 2 4 0 9
Preventiongenetics, part of Exact Sciences 0 0 3 1 5 0 9
Blueprint Genetics 1 0 5 1 0 0 7
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 0 1 2 3 0 7
Genetic Services Laboratory, University of Chicago 0 0 1 0 5 0 6
OMIM 5 0 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 5
Cohesion Phenomics 0 0 0 0 5 0 5
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 4 0 4
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 0 3 0 0 0 4
AiLife Diagnostics, AiLife Diagnostics 0 0 4 0 0 0 4
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 1 0 2 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Eurofins Ntd Llc (ga) 0 0 0 0 2 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
GeneReviews 0 0 0 0 0 1 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Heart Center, Academic Medical Center Amsterdam 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Klaassen Lab, Charite University Medicine Berlin 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
Loeys Lab, Universiteit Antwerpen 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 0 0 1 0 0 0 1
Arcensus 0 1 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 1 0 0 0 0 0 1

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