ClinVar Miner

Variants studied for arrhythmogenic right ventricular dysplasia 11

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
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 total
50 24 616 370 37 1056

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 46 21 587 354 35 1003
DSC2, DSCAS 4 3 29 16 1 52
DSC2, DSC3, DSCAS 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 46 15 535 353 33 982
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
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
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
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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