ClinVar Miner

Variants studied for Familial isolated arrhythmogenic right ventricular dysplasia

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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
25 11 4 2 1 43

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKP2 15 5 1 1 0 22
DSP 3 4 1 0 0 8
SCN5A 6 0 0 0 0 6
DSC2 0 1 1 1 1 4
BAG3 0 0 1 0 0 1
MHRT, MYH7 0 1 0 0 0 1
TMEM43 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 10 0 0 0 29
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 6 0 0 0 0 6
CSER _CC_NCGL, University of Washington 0 0 3 2 0 5
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 0 1 2
Department of Genetics, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran 0 1 0 0 0 1

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