ClinVar Miner

Variants studied for Arrhythmogenic right ventricular dysplasia 9

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
195 61 672 430 53 1330

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKP2 191 56 653 428 53 1300
LOC130007664, PKP2 0 0 6 1 0 7
DSP 0 3 0 0 0 3
TTN 0 0 2 1 0 3
DNM1L, FGD4, PKP2, YARS2 0 0 2 0 0 2
DSG2 2 0 0 0 0 2
LMNA 0 2 0 0 0 2
LOC129390434, PKP2 1 0 1 0 0 2
CEP85L, PLN 1 0 0 0 0 1
DES 0 0 1 0 0 1
DNM1L, FGD4, LOC126861496, LOC126861497, LOC129390433, LOC129390434, LOC130007663, PKP2, YARS2 0 0 1 0 0 1
DSC2 0 0 1 0 0 1
LOC126806067, RYR2 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

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 183 32 579 396 39 1229
Illumina Laboratory Services, Illumina 1 0 83 26 12 122
Fulgent Genetics, Fulgent Genetics 11 3 51 4 1 70
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 8 6 14 30
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 6 9 11 29
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
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 2 1 11 1 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 2 4 1 0 13
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 8 2 2 0 0 12
Revvity Omics, Revvity 3 1 7 0 0 11
Mendelics 0 1 2 0 8 11
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 4 3 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 2 2 0 7
Baylor Genetics 4 2 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 4 1 1 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 3 0 0 5
OMIM 4 0 0 0 0 4
New York Genome Center 3 0 1 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 1 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 3
MGZ Medical Genetics Center 2 1 0 0 0 3
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
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 2
deCODE genetics, Amgen 1 1 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 1 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 National Medical Research Centre 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 1
Cardiology unit, Meyer University Hospital 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 1

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