ClinVar Miner

Variants studied for childhood malignant neoplasm

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 other not provided total
18 12 47 22 20 1 1 120

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
DICER1 12 7 29 22 20 0 1 90
MET 3 0 0 0 0 0 0 3
TP53 1 2 0 0 0 0 0 3
BRCA2 1 0 1 0 0 0 0 2
FANCA 0 0 2 0 0 0 0 2
NF1 0 0 2 0 0 0 0 2
POLE 0 0 2 0 0 0 0 2
ALK 0 0 1 0 0 0 0 1
BCAN, BGLAP, CCT3, CRABP2, GLMP, GPATCH4, HAPLN2, HDGF, INSRR, IQGAP3, ISG20L2, LMNA, MEF2D, METTL25B, MIR9-1, MIR9-1HG, MRPL24, NAXE, NES, NTRK1, PAQR6, PMF1, PMF1-BGLAP, PRCC, RHBG, SEMA4A, SH2D2A, SLC25A44, SMG5, TMEM79, TSACC, TTC24, VHLL 1 0 0 0 0 0 0 1
BRIP1 0 1 0 0 0 0 0 1
CDK4, TSPAN31 0 0 1 0 0 0 0 1
FGFR3 0 0 1 0 0 0 0 1
IDH1 0 0 1 0 0 0 0 1
KDM5B 0 0 1 0 0 0 0 1
LZTR1 0 1 0 0 0 0 0 1
MET, RBPMS 0 0 0 0 0 1 0 1
NBN 0 0 1 0 0 0 0 1
PALB2 0 0 1 0 0 0 0 1
PMS2 0 0 1 0 0 0 0 1
RAD51B 0 0 1 0 0 0 0 1
RET 0 0 1 0 0 0 0 1
SDHA 0 0 1 0 0 0 0 1
SUFU 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 8 16 0 0 24
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 3 19 0 0 0 0 22
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 5 2 14 0 0 0 0 21
Illumina Laboratory Services, Illumina 0 0 7 6 4 0 0 17
Fulgent Genetics, Fulgent Genetics 1 0 4 9 1 0 0 15
OMIM 9 0 0 0 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 2 1 0 0 0 0 5
MGZ Medical Genetics Center 0 1 2 0 0 0 0 3
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 2 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 0 0 1 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 0 1
Michigan Center for Translational Pathology, University of Michigan 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 0 1

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