ClinVar Miner

Variants studied for Arrhythmogenic right ventricular cardiomyopathy

Coded as:
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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
71 119 1163 488 54 1847

Gene and significance breakdown #

Total genes and gene combinations: 54
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKP2 48 55 430 210 17 738
DSG2 6 18 485 196 20 707
DSP 7 32 45 19 6 106
RYR2 1 0 60 9 1 70
DSC2 2 7 30 4 3 45
DSG2, LOC130062340 0 0 22 5 1 27
TMEM43 1 0 19 0 1 21
TMEM43, XPC 0 0 0 21 0 21
TTN 0 0 5 6 2 13
JUP 0 1 10 0 1 12
TGFB3 0 0 10 0 0 10
SCN5A 1 0 6 1 0 8
DES 1 2 3 0 0 6
DSC2, DSCAS 0 0 5 0 0 5
ABCC9 0 0 1 1 1 3
DMD 0 0 3 0 0 3
FLNC 1 0 2 0 0 3
LAMA4 0 0 3 0 0 3
LMNA 1 1 1 0 0 3
RBM20 0 0 3 0 0 3
CDH2 0 0 2 0 0 2
IFT43, TGFB3 0 0 0 2 0 2
KCNE1 0 0 2 0 0 2
LOC126806068, RYR2 0 0 2 0 0 2
LOC130007664, PKP2 0 0 1 1 0 2
MYH6 0 0 1 1 0 2
ABCC9, KCNJ8 0 0 1 0 0 1
ACTN2 0 1 0 0 0 1
AKAP9 0 0 0 1 0 1
ANK2, LOC126807137 0 0 1 0 0 1
C2orf49, FHL2 0 0 1 0 0 1
CACNA1C 0 0 0 1 0 1
CACNB2 0 0 1 0 0 1
CALR3 0 0 0 1 0 1
CTNNA3 1 0 0 0 0 1
DSC2, DSG2 0 1 1 1 0 1
HCN4 0 0 1 0 0 1
KCNH2 0 0 0 1 0 1
LDB3 0 0 0 1 0 1
LOC101927055, TTN 0 0 0 1 0 1
LOC126806067, RYR2 0 0 1 0 0 1
LOC126806425, TTN 0 0 0 1 0 1
LOC126861897, MHRT, MYH7 0 0 1 0 0 1
LOC126861898, MYH7 0 0 1 0 0 1
MYBPC3 1 0 0 0 0 1
MYL2 0 0 1 0 0 1
MYOM1 0 0 1 0 0 1
MYPN 0 0 0 1 0 1
PTPN11 0 0 0 1 0 1
RYR1 0 1 0 0 0 1
SGCA 0 0 0 1 0 1
SOS1 0 0 0 0 1 1
TMPO 0 0 0 1 0 1
TRPM4 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
All of Us Research Program, National Institutes of Health 32 9 876 394 34 1345
Illumina Laboratory Services, Illumina 0 2 134 54 1 191
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 27 78 6 0 0 111
Blueprint Genetics 6 13 37 2 0 58
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 13 0 32 0 0 45
CSER _CC_NCGL, University of Washington 0 5 28 7 0 40
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 2 3 11 19 5 40
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 24 7 5 36
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 5 4 13 0 2 24
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 4 9 9 23
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 7 1 0 9
Molecular Genetics, Royal Melbourne Hospital 3 0 4 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 2 0 3 6
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 1 4 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 4
Klaassen Lab, Charite University Medicine Berlin 0 3 1 0 0 4
Cardiac Research Department, West China Second University Hospital 3 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 2
Rampazzo Lab, Human Molecular Genetics Unit, University of Padua 1 1 0 0 0 2
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 1 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 1
Genotypic Technology Pvt Ltd 0 0 1 0 0 1

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