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
351 41 1550 658 111 2 2667

Gene and significance breakdown #

Total genes and gene combinations: 9
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other total
DICER1 345 40 1549 658 111 0 2657
MET 3 0 0 0 0 0 3
ACVR1 0 0 0 0 0 1 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 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
MET, RBPMS 0 0 0 0 0 1 1
NF1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Invitae 130 19 1472 638 62 0 2321
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 239 18 1 0 0 0 258
Illumina Clinical Services Laboratory,Illumina 0 0 79 21 74 0 174
International Pleuropulmonary Blastoma Registry,Children's Hospitals and Clinics of Minnesota 82 0 1 0 0 0 83
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 2 1 7 2 1 0 13
Fulgent Genetics,Fulgent Genetics 0 1 10 0 0 0 11
OMIM 9 0 0 0 0 0 9
Mendelics 0 0 1 4 1 0 6
Baylor Genetics 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
CIViC knowledgebase,Washington University School of Medicine 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 0 1 1
Michigan Center for Translational Pathology,University of Michigan 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.