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
15 83 586 268 26 946

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RYR2 0 0 149 73 1 222
DSP 0 19 80 74 15 175
PKP2 12 43 68 25 4 142
DSG2 1 10 96 27 3 131
DSC2 0 7 51 13 3 72
TMEM43 1 0 45 9 0 55
JUP 0 1 37 15 0 53
TGFB3 0 0 27 6 0 33
TMEM43, XPC 0 0 0 21 0 21
DSC2, DSCAS 0 0 11 1 0 12
SCN5A 0 0 4 0 0 4
TTN 0 0 4 0 0 4
ABCC9 0 0 2 0 0 2
DES 0 1 1 0 0 2
DMD 0 0 2 0 0 2
IFT43, TGFB3 0 0 0 2 0 2
LAMA4 0 0 2 0 0 2
LMNA 0 1 1 0 0 2
RBM20 0 0 2 0 0 2
ACTN2 0 1 0 0 0 1
ANK2 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
KCNH2 0 0 0 1 0 1
MYOM1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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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 10 62 0 0 0 72
Blueprint Genetics, 6 13 37 2 0 58
CSER_CC_NCGL; University of Washington Medical Center 0 5 28 7 0 40
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 24 7 5 36
Biesecker Lab/Human Development Section,National Institutes of Health 0 1 4 9 9 23
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 3 4 15 0 0 22
Integrated Genetics/Laboratory Corporation of America 2 1 2 1 4 10
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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