ClinVar Miner

Variants studied for childhood malignant neoplasm

Included ClinVar conditions (6):
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 total
142 12 921 400 70 6 1527

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other total
DICER1 139 11 860 375 63 0 1424
WT1 0 0 33 19 5 0 57
LOC107982234, WT1 0 0 24 6 2 0 32
CTNNB1 0 0 0 0 0 3 3
BCAN, BGLAP, C1orf61, CCT3, CRABP2, GLMP, GPATCH4, HAPLN2, HDGF, INSRR, IQGAP3, ISG20L2, LMNA, MEF2D, MIR9-1, MRPL24, NAXE, NES, NTRK1, PAQR6, PMF1, PMF1-BGLAP, PRCC, RHBG, RRNAD1, SEMA4A, SH2D2A, SLC25A44, SMG5, TMEM79, TSACC, TTC24, VHLL 1 0 0 0 0 0 1
BRCA2 1 0 0 0 0 0 1
BRIP1 0 1 0 0 0 0 1
CHEK2 1 0 0 0 0 0 1
FZD6 0 0 0 0 0 1 1
MED12 0 0 0 0 0 1 1
MSH2 0 0 1 0 0 0 1
NF1 0 0 1 0 0 0 1
SMAD4 0 0 1 0 0 0 1
TET2 0 0 0 0 0 1 1
VHL 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Invitae 71 10 824 329 52 0 1286
Illumina Clinical Services Laboratory,Illumina 0 0 92 77 24 0 193
International Pleuropulmonary Blastoma Registry,Children's Hospitals and Clinics of Minnesota 82 0 1 0 0 0 83
Fulgent Genetics,Fulgent Genetics 0 1 10 0 0 0 11
Clinical Genomics Lab,St. Jude Children's Research Hospital 2 1 5 0 0 0 8
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 6 7
OMIM 6 0 0 0 0 0 6
Michigan Center for Translational Pathology,University of Michigan 1 0 0 0 0 0 1

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