ClinVar Miner

Variants studied for arrhythmogenic right ventricular dysplasia 9

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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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
89 21 309 110 47 519

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKP2 88 17 299 109 47 503
TTN 0 0 2 1 0 3
DSP 0 2 0 0 0 2
LMNA 0 2 0 0 0 2
CEP85L, PLN 1 0 0 0 0 1
DES 0 0 1 0 0 1
DNM1L, FGD4, PKP2, YARS2 0 0 1 0 0 1
DSC2 0 0 1 0 0 1
MYH6 0 0 1 0 0 1
MYH7 0 0 1 0 0 1
NEXN 0 0 1 0 0 1
PRKAG2 0 0 1 0 0 1
RYR2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 82 14 228 79 30 433
Illumina Clinical Services Laboratory,Illumina 1 0 83 26 12 122
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 3 0 6 10 11 30
Genome Diagnostics Laboratory,University Medical Center Utrecht 6 0 1 7 10 24
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 6 0 5 8 3 22
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 2 0 8 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 1 1 4 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 5 2 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 3 0 2 0 0 5
OMIM 4 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 3
Heart Center,Academic Medical Center Amsterdam 1 2 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 1
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 1

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