ClinVar Miner

Variants studied for arrhythmogenic right ventricular cardiomyopathy

Included ClinVar conditions (29):
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
204 144 1613 407 82 2316

Gene and significance breakdown #

Total genes and gene combinations: 50
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DSP 67 50 413 101 22 607
PKP2 67 51 220 54 24 376
DSG2 27 22 201 45 4 281
RYR2 4 0 174 74 1 252
DSC2 12 11 165 37 10 216
JUP 9 3 142 23 4 176
TMEM43 2 0 119 16 3 136
CTNNA3 2 0 91 1 4 98
TGFB3 2 0 30 6 0 38
TMEM43, XPC 0 0 0 21 0 21
TTN 0 0 8 9 4 21
DSC2, DSCAS 2 0 13 1 1 16
SCN5A 6 0 4 1 0 11
PLEC 0 0 2 4 0 6
LMNA 1 3 1 0 0 5
ABCC9 0 0 2 1 1 4
DES 0 3 1 0 0 4
RBM20 0 0 3 0 1 4
DMD 0 0 3 0 0 3
LAMA4 0 0 3 0 0 3
MYH6 0 0 2 1 0 3
DSP, LOC110121274 2 0 0 0 0 2
IFT43, TGFB3 0 0 0 2 0 2
KCNE1 0 0 2 0 0 2
MYH7 0 0 2 0 0 2
TMPO 0 0 0 1 1 2
TRPM4 0 0 1 0 1 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
CEP85L, PLN 1 0 0 0 0 1
CTNNA3, LOC101928961, LRRTM3 0 0 1 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
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
MYL2 0 0 1 0 0 1
MYOM1 0 0 1 0 0 1
MYPN 0 0 0 1 0 1
NEXN 0 0 1 0 0 1
PRKAG2 0 0 1 0 0 1
PTPN11 0 0 0 1 0 1
SGCA 0 0 0 1 0 1
SOS1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 153 30 980 83 22 1268
Illumina Clinical Services Laboratory,Illumina 1 0 486 256 10 753
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 17 71 0 0 0 88
Blueprint Genetics 6 13 37 2 0 58
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 4 0 10 18 19 51
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 2 3 11 20 12 48
CSER _CC_NCGL, University of Washington 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 7 6 19 2 2 36
OMIM 32 0 2 0 0 34
Fulgent Genetics,Fulgent Genetics 5 0 29 0 0 34
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 4 9 9 23
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
Mendelics 0 0 4 0 10 14
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 3 0 4 1 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 1 4 7
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 1 4 0 1 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 0 0 0 0 6
Heart Center,Academic Medical Center Amsterdam 2 2 0 0 0 4
Klaassen Lab,Charite University Medicine Berlin 0 3 1 0 0 4
GeneReviews 2 0 0 0 1 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 1 0 3
Baylor Genetics 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 1

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