ClinVar Miner

Variants studied for arrhythmogenic right ventricular dysplasia 10

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
82 47 699 426 48 1 1231

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 79 41 672 406 47 1 1178
DSG2, LOC130062340 3 5 24 20 1 0 49
DSG2, TTR 0 0 3 0 0 0 3
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
Invitae 75 20 616 395 44 0 1150
Illumina Laboratory Services, Illumina 0 1 92 31 11 0 135
Fulgent Genetics, Fulgent Genetics 3 8 73 14 3 0 101
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 2 1 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 3 1 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
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
New York Genome Center 0 1 1 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 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
Breda Genetics srl 0 1 0 0 0 0 1
Division of Medical Genetics, University of Washington 0 1 0 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 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

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