ClinVar Miner

Variants studied for arrhythmogenic right ventricular dysplasia 11

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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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
20 12 305 112 25 444

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DSC2 18 10 290 109 24 421
DSC2, DSCAS 2 2 15 3 1 23

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 17 9 224 96 17 363
Illumina Clinical Services Laboratory,Illumina 0 0 82 11 9 102
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 4 8 8 21
Genome Diagnostics Laboratory,University Medical Center Utrecht 2 0 1 7 6 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 2 5 6 15
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
Mendelics 0 0 1 0 1 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Phosphorus, Inc. 0 0 2 0 0 2
Baylor Genetics 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, Oman 0 0 1 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1

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