ClinVar Miner

Variants studied for Arrhythmogenic right ventricular dysplasia 13

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 not provided total
2 1 438 202 52 2 690

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CTNNA3 2 1 433 202 52 2 685
CTNNA3, LOC132089820, LOC132089821 0 0 2 0 0 0 2
CTNNA3, LOC101928961, LRRTM3 0 0 1 0 0 0 1
CTNNA3, LOC126860948, LOC132089819, LOC132089820, LOC132089821 0 0 1 0 0 0 1
CTNNA3, LRRTM3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 422 199 52 0 673
Revvity Omics, Revvity 0 0 8 2 0 0 10
Fulgent Genetics, Fulgent Genetics 0 0 8 1 0 0 9
New York Genome Center 0 0 3 0 0 0 3
OMIM 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1

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