ClinVar Miner

Variants studied for Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8

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
504 55 1443 1799 222 4022

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
DSP 502 55 1442 1799 222 4019
DSP, LOC110121274 2 0 0 0 0 2
BMP6, DSP, SNRNP48 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 503 55 1441 1799 222 4020
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1

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