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 |
64
|
171
|
231
|
60
|
11
|
1
|
535
|
Gene and significance breakdown #
Total genes and gene combinations: 35
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
CEBPA
|
17
|
4
|
218
|
60
|
11
|
0 |
309
|
TP53
|
0 |
62
|
0 |
0 |
0 |
0 |
62
|
FLT3
|
11
|
26
|
0 |
0 |
0 |
1
|
37
|
NRAS
|
0 |
15
|
0 |
0 |
0 |
0 |
15
|
HRAS, LRRC56
|
0 |
13
|
0 |
0 |
0 |
0 |
13
|
SF3B1
|
0 |
13
|
0 |
0 |
0 |
0 |
13
|
NPM1
|
5
|
4
|
0 |
0 |
0 |
0 |
9
|
IDH2
|
6
|
2
|
0 |
0 |
0 |
0 |
8
|
DNMT3A
|
6
|
1
|
0 |
0 |
0 |
0 |
7
|
RUNX1
|
0 |
5
|
2
|
0 |
0 |
0 |
7
|
IDH1
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
KRAS
|
1
|
5
|
0 |
0 |
0 |
0 |
6
|
KIT
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
DDX41
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
U2AF1
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
BRCA2
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
GATA2
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
PTPN11
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
ETV6
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
INSL6, JAK2
|
2
|
1
|
0 |
0 |
0 |
0 |
2
|
TERT
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
WT1
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
ALK
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, TCL1A, TUNAR
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CBFB
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CSF3R
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
JAK1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC100507346, PTCH1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PAX5
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
RTEL1, RTEL1-TNFRSF6B
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SF3B2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TEK
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TGM6
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
TMEM127
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TSC1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
3
|
4
|
215
|
60
|
8
|
0 |
290
|
Database of Curated Mutations (DoCM)
|
30
|
162
|
0 |
0 |
0 |
0 |
192
|
OMIM
|
26
|
0 |
0 |
0 |
0 |
0 |
26
|
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital
|
0 |
0 |
9
|
1
|
0 |
0 |
10
|
GeneReviews
|
6
|
0 |
0 |
0 |
3
|
0 |
9
|
Fulgent Genetics,Fulgent Genetics
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Genetic Services Laboratory,University of Chicago
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Bone Marrow Failure laboratory,Queen Mary University London
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Johns Hopkins Genomics,Johns Hopkins University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Godley laboratory, The University of Chicago
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Fujian Institute of Hematology,Fujian Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
INSERM UMR 1170,INSERM
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics,University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory Oncology Unit, Dr.B.R.A. Institute Rotary Cancer Hospital,All India Institute of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Haematology Laboratory,NSW Health Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Malcovati Lab, University of Pavia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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