ClinVar Miner

Variants studied for Arrhythmogenic right ventricular dysplasia 2

Coded as:
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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
3 8 223 50 43 324

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 total
RYR2 3 7 208 48 43 307
LOC126806068, RYR2 0 0 9 1 0 10
LOC126806067, RYR2 0 0 6 1 0 6
FPGT-TNNI3K, TNNI3K 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 198 49 33 280
Genome-Nilou Lab 0 0 0 0 23 23
Baylor Genetics 2 2 9 0 0 13
MGZ Medical Genetics Center 0 0 9 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 1 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 1 0 0 2
Phosphorus, Inc. 0 0 2 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1

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