ClinVar Miner

Variants studied for DICER1-related tumor predisposition

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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
505 74 2560 1838 154 5 5058

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 not provided total
DICER1 505 73 2555 1838 151 5 5049
DICER1, LOC130056358 0 0 4 0 3 0 7
ASB2, BTBD7, COX8C, DDX24, DICER1, FAM181A, GSC, IFI27, IFI27L1, IFI27L2, OTUB2, PPP4R4, PRIMA1, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, UBR7, UNC79 0 1 0 0 0 0 1
DICER1, GSC, SERPINA3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 314 47 2475 1817 111 0 4764
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 242 17 1 0 0 0 260
Illumina Laboratory Services, Illumina 0 2 72 15 70 0 159
ClinGen DICER1 and miRNA-Processing Gene Variant Curation Expert Panel, ClinGen 13 14 66 20 8 0 121
International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota 82 0 1 0 0 0 83
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 9 2 1 0 14
Mendelics 0 0 1 4 1 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Genome-Nilou Lab 0 0 0 0 3 0 3
Baylor Genetics 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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