ClinVar Miner

Variants studied for arrhythmogenic right ventricular cardiomyopathy

Included ClinVar conditions (21):
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
163 118 1372 626 220 2289

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DSP 52 31 336 175 71 591
PKP2 54 52 188 97 35 376
DSG2 20 18 171 78 31 285
RYR2 4 0 173 73 1 250
DSC2 11 11 138 67 20 219
JUP 7 1 119 55 19 190
TMEM43 2 0 100 34 16 141
CTNNA3 2 0 72 9 26 108
TGFB3 2 0 28 6 0 36
TMEM43, XPC 0 0 0 21 0 21
DSC2, DSCAS 2 0 14 2 1 18
SCN5A 6 0 4 0 0 10
TTN 0 0 7 1 0 8
PLEC 0 0 2 4 0 6
LMNA 0 3 1 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
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
CEP85L, PLN 1 0 0 0 0 1
DNM1L, FGD4, PKP2, YARS2 0 0 1 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
MYH6 0 0 1 0 0 1
MYH7 0 0 1 0 0 1
MYOM1 0 0 1 0 0 1
NEXN 0 0 1 0 0 1
PRKAG2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 118 23 756 349 196 1442
Illumina Clinical Services Laboratory,Illumina 1 0 486 256 10 753
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 10 62 0 0 0 72
Blueprint Genetics, 6 13 37 2 0 58
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 4 0 10 18 19 51
CSER_CC_NCGL; University of Washington Medical Center 0 5 32 9 0 46
Genome Diagnostics Laboratory,University Medical Center Utrecht 8 0 2 14 16 40
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 6 2 7 13 9 37
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 24 7 5 36
OMIM 32 0 2 0 0 34
Fulgent Genetics 5 0 29 0 0 34
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 5 5 2 1 4 17
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 2 1 11 1 0 15
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 6 7 0 0 0 13
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 6 0 2 4 0 12
Phosphorus, Inc. 0 0 8 1 1 10
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 8 0 0 9
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 8 0 0 8
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 4 1 0 6
GeneReviews 2 0 0 0 1 3
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 2 0 1 3
HudsonAlpha Institute for Biotechnology 3 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 1 0 3
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 2
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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 1
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Department of Medical Bioinformatics,Sinopath Diagnosis 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1

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