ClinVar Miner

Variants in gene TMEM43

See also:
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 total
4 2 169 80 32 243

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Arrhythmogenic right ventricular cardiomyopathy, type 5 2 0 58 25 16 99
not specified 0 0 31 40 24 87
Arrhythmogenic right ventricular cardiomyopathy 1 0 45 9 0 55
not provided 1 1 40 4 7 52
Cardiomyopathy 0 1 24 16 14 51
Cardiovascular phenotype 1 0 23 8 10 42
Emery-Dreifuss muscular dystrophy 7, autosomal dominant 2 0 0 0 0 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
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: 22
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 57 25 16 99
GeneDx 1 1 29 29 13 73
Illumina Clinical Services Laboratory,Illumina 0 0 46 9 0 55
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 25 11 13 50
Ambry Genetics 1 0 23 8 10 42
Color 0 0 16 12 14 42
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 9 2 6 17
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 6 4 5 15
Integrated Genetics/Laboratory Corporation of America 1 0 5 2 7 15
Blueprint Genetics, 1 0 5 1 0 7
PreventionGenetics 0 0 0 1 5 6
Athena Diagnostics Inc 0 0 2 1 2 5
Genetic Services Laboratory, University of Chicago 0 0 1 0 4 5
OMIM 4 0 0 0 0 4
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 0 3 0 0 4
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 1 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
Fulgent Genetics 0 0 1 0 0 1
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.