ClinVar Miner

Variants studied for Arrhythmogenic right ventricular dysplasia 9

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
243 85 819 527 54 1640

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKP2 239 79 799 525 54 1608
LOC130007664, PKP2 0 0 6 1 0 7
TTN 0 1 2 1 0 4
DSP 0 3 0 0 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
PPP1R3A 0 0 1 0 0 1
PRKAG2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 228 36 726 492 40 1522
Illumina Laboratory Services, Illumina 2 2 84 26 12 126
Fulgent Genetics, Fulgent Genetics 11 5 53 4 1 74
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5 0 14 9 16 44
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 6 9 11 29
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 2 6 1 0 25
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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 10 2 2 0 0 14
Revvity Omics, Revvity 4 1 7 0 0 12
Juno Genomics, Hangzhou Juno Genomics, Inc 6 4 1 0 0 11
Mendelics 0 1 2 0 8 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 1 3 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 6 2 1 0 0 9
Baylor Genetics 5 2 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 2 2 0 7
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 4 3 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 0 0 0 0 6
Institute of Human Genetics, Heidelberg University 3 3 0 0 0 6
Variantyx, Inc. 4 2 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 3 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 2 0 0 5
Clinical Genomics Laboratory, Stanford Medicine 1 0 3 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 4
New York Genome Center 3 0 1 0 0 4
OMIM 4 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 1 0 0 3
Heart Center, Academic Medical Center Amsterdam 1 2 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 3
MGZ Medical Genetics Center 2 1 0 0 0 3
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 3 0 0 0 0 3
3billion 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 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
Genomics England Pilot Project, Genomics England 1 1 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 1 1 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 1 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 0 0 0 2
deCODE genetics, Amgen 1 1 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Cardiology unit, Meyer University Hospital 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 1 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 1
Phosphorus, Inc. 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
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 1 0 1

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