ClinVar Miner

Variants studied for Arrhythmogenic right ventricular dysplasia 10

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
85 48 695 423 48 1 1234

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DSG2 82 42 666 404 47 1 1180
DSG2, LOC130062340 3 5 25 19 1 0 49
DSG2, TTR 0 0 4 0 0 0 4
PRKAR1A 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 78 20 617 395 44 0 1154
Illumina Laboratory Services, Illumina 0 1 92 31 11 0 135
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 10 1 0 0 15
OMIM 9 0 0 0 0 0 9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 7 0 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 4 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 3 1 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 1 1 0 0 4
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 3 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 3
Baylor Genetics 1 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Division of Medical Genetics, University of Washington 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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