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 |
16
|
8
|
35
|
22
|
20
|
1
|
1
|
102
|
Gene and significance breakdown #
Total genes and gene combinations: 16
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
other |
not provided |
total |
DICER1
|
9
|
5
|
27
|
22
|
20
|
0 |
1
|
83
|
TP53
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
PALB2
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
AP1B1, ASCC2, CABP7, CASTOR1, CCDC157, DUSP18, EWSR1, GAL3ST1, GAS2L1, HORMAD2, INPP5J, LIF, LIMK2, MORC2, MTFP1, MTMR3, NEFH, NF2, NIPSNAP1, OSBP2, OSM, PATZ1, PES1, PIK3IP1, PLA2G3, RASL10A, RFPL1, RFPL1S, RNF185, RNF215, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SF3A1, SLC35E4, SMTN, TBC1D10A, TCN2, THOC5, TUG1, UQCR10, ZMAT5
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ATRX
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CIC
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KRAS
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC107303340, VHL
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC110806263, TERT
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MSH6
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PDGFRA
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
POT1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
RAD50
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
RNF213
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
ROS1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
RUNX1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
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
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
3
|
0 |
16
|
0 |
0 |
0 |
0 |
19
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
7
|
6
|
4
|
0 |
0 |
17
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
4
|
9
|
1
|
0 |
0 |
15
|
Salgia Laboratory, City of Hope
|
4
|
0 |
6
|
0 |
0 |
0 |
0 |
10
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
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
|
Genome Sciences Centre, British Columbia Cancer Agency
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Tampere Brain Tumor Research Consortium, University of Tampere
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Medizinische Genetik Mainz, Limbach Genetics GmbH
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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