ClinVar Miner

Variants studied for Arrhythmogenic right ventricular cardiomyopathy, type 9

Coded as:
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Gene type:
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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
52 12 135 76 33 293

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKP2 51 10 125 75 33 279
TTN 0 0 2 1 0 3
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: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 46 7 114 62 28 257
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
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 5 2 0 0 0 7
Fulgent Genetics 3 0 2 0 0 5
OMIM 4 0 0 0 0 4
HudsonAlpha Institute for Biotechnology 3 0 0 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 3 0 0 3
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 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

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