ClinVar Miner

Variants studied for Arrhythmogenic right ventricular dysplasia 10

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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
97 53 796 480 48 1 1405

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DSG2 93 45 763 458 47 0 1343
DSG2, LOC130062340 4 6 28 22 1 0 56
DSG2, TTR 0 0 4 0 0 0 4
DSC2, DSG2 0 1 1 0 0 1 1
PRKAR1A 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 90 22 717 452 44 0 1325
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
KardioGenetik, Herz- und Diabeteszentrum NRW 0 2 3 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 1 1 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 2 0 0 0 0 2
3billion 0 2 0 0 0 0 2
Medical Genome Center, National Cerebral and Cardiovascular 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
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
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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