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
25 89 603 287 32 1002

Gene and significance breakdown #

Total genes and gene combinations: 43
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RYR2 0 0 150 74 1 224
DSP 2 23 80 74 15 181
PKP2 18 40 69 25 4 146
DSG2 2 13 99 27 3 138
DSC2 0 7 51 13 3 72
TMEM43 1 0 46 9 1 56
JUP 0 1 37 15 1 53
TGFB3 0 0 27 6 0 33
TMEM43, XPC 0 0 0 21 0 21
TTN 0 0 5 7 2 14
DSC2, DSCAS 0 0 11 1 0 12
SCN5A 0 0 4 1 0 5
ABCC9 0 0 2 1 1 4
DES 0 3 1 0 0 4
DMD 0 0 3 0 0 3
LAMA4 0 0 3 0 0 3
LMNA 1 1 1 0 0 3
RBM20 0 0 3 0 0 3
IFT43, TGFB3 0 0 0 2 0 2
MYH6 0 0 1 1 0 2
ACTN2 0 1 0 0 0 1
AKAP9 0 0 0 1 0 1
ANK2 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
FHL2 0 0 1 0 0 1
HCN4 0 0 1 0 0 1
KCNE1 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
MHRT, MYH7 0 0 1 0 0 1
MYH7 0 0 1 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
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: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 483 256 10 749
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 16 59 0 0 0 75
Blueprint Genetics 6 13 37 2 0 58
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 24 7 5 36
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 7 6 19 2 2 36
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 4 9 9 23
Integrated Genetics/Laboratory Corporation of America 2 1 2 1 4 10
Klaassen Lab,Charite University Medicine Berlin 0 3 1 0 0 4
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 2 0 0 3
Rampazzo Lab, Human Molecular Genetics Unit,University of Padua 1 1 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 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

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