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
502 74 2556 1835 154 5 5052

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 502 73 2551 1835 151 5 5043
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 311 47 2473 1817 111 0 4759
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 54 16 8 0 105
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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