ClinVar Miner

Variants studied for Arrhythmogenic right ventricular dysplasia 9

Coded as:
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
222 73 745 487 54 1497

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 218 67 726 485 54 1466
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
PRKAG2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 207 35 651 453 40 1386
Illumina Laboratory Services, Illumina 1 0 83 26 12 122
Fulgent Genetics, Fulgent Genetics 11 5 53 4 1 74
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 0 11 7 15 36
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 2 5 1 0 18
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 3 1 7 0 0 11
Mendelics 0 1 2 0 8 11
Juno Genomics, Hangzhou Juno Genomics, Inc 5 2 1 0 0 8
Baylor Genetics 5 2 0 0 0 7
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
Institute of Human Genetics, University of Leipzig Medical Center 5 1 1 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 2 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 3 0 0 5
Institute of Human Genetics, Heidelberg University 3 2 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 2 0 0 5
OMIM 4 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 1 0 3 0 0 4
New York Genome Center 3 0 1 0 0 4
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
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
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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 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
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 1
Cardiology unit, Meyer University Hospital 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 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, Medical Genetics 1 0 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
Department of Human Genetics, Hannover Medical School 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

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