ClinVar Miner

Variants studied for Arrhythmogenic right ventricular dysplasia 11

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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
52 25 617 370 37 1060

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DSC2 47 22 588 354 35 1006
DSC2, DSCAS 4 3 29 16 2 53
DSC1, DSC2, DSG1, DSG2, DSG3, DSG4, TTR 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 47 15 535 353 33 983
Illumina Laboratory Services, Illumina 0 0 82 11 9 102
Fulgent Genetics, Fulgent Genetics 1 4 58 7 1 71
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 8 8 19
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 1 7 6 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 2 5 6 15
Revvity Omics, Revvity 3 0 7 0 0 10
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 4 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 1 0 4
OMIM 2 0 1 0 0 3
Baylor Genetics 1 1 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
Mendelics 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 2
Phosphorus, Inc. 0 0 2 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 1 2
New York Genome Center 0 0 2 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 2 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Department of Medical Bioinformatics, Sinopath Diagnosis 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1

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