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 |
risk factor |
not provided |
total |
143
|
222
|
792
|
308
|
47
|
1
|
14
|
1504
|
Gene and significance breakdown #
Total genes and gene combinations: 76
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
CEBPA
|
32
|
15
|
570
|
259
|
13
|
0 |
11
|
889
|
TP53
|
14
|
67
|
11
|
0 |
7
|
0 |
0 |
98
|
RUNX1
|
6
|
12
|
55
|
6
|
10
|
0 |
0 |
86
|
GATA2
|
1
|
3
|
47
|
1
|
0 |
0 |
0 |
52
|
TERT
|
1
|
2
|
19
|
17
|
14
|
0 |
0 |
52
|
CEBPA, LOC130064183
|
0 |
0 |
32
|
11
|
0 |
0 |
0 |
43
|
FLT3
|
12
|
27
|
0 |
0 |
0 |
0 |
1
|
39
|
NPM1
|
8
|
4
|
12
|
2
|
0 |
0 |
0 |
26
|
KIT
|
3
|
2
|
13
|
3
|
0 |
0 |
0 |
21
|
KRAS
|
5
|
6
|
4
|
6
|
0 |
0 |
0 |
20
|
DNMT3A
|
7
|
6
|
2
|
0 |
1
|
0 |
0 |
15
|
NRAS
|
1
|
15
|
0 |
0 |
0 |
0 |
0 |
15
|
HRAS, LRRC56
|
0 |
13
|
0 |
0 |
0 |
0 |
0 |
13
|
SF3B1
|
1
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
IDH2
|
6
|
2
|
0 |
0 |
0 |
0 |
0 |
8
|
GATA1
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
IDH1
|
6
|
0 |
1
|
0 |
0 |
0 |
0 |
7
|
JAK3
|
0 |
7
|
0 |
0 |
0 |
0 |
0 |
7
|
NSD1
|
3
|
1
|
3
|
0 |
0 |
0 |
0 |
7
|
DDX41
|
4
|
2
|
0 |
0 |
0 |
0 |
0 |
6
|
INSL6, JAK2
|
2
|
1
|
1
|
1
|
1
|
0 |
1
|
6
|
MIR181A1HG
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
PTPN11
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
4
|
U2AF1
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
4
|
LOC110806263, TERT
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
CBFA2T3
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CTCF
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
ETV6
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
2
|
LOC129934333, TMEM127
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
LPP
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
MFSD11, SRSF2
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
SETD2
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
WT1
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
intergenic
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ACP3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, LOC126862036, LOC126862037, LOC126862038, LOC129390666, LOC130056381, LOC130056382, LOC130056383, LOC130056384, LOC130056385, LOC130056386, LOC130056387, LOC130056388, LOC130056389, LOC130056390, LOC130056391, LOC130056392, LOC130056393, LOC130056394, LOC130056395, LOC130056396, LOC130056397, LOC132090293, LOC132090294, TCL1A, TUNAR
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BCOR
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CBFB
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CEBPA, GPATCH1, LRP3, RHPN2, SLC7A10, WDR88
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CORO7, CORO7-PAM16
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CSF3R
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DNAJC21
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
EPOR
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ERBB3
|
0 |
1
|
0 |
0 |
0 |
1
|
0 |
1
|
ETV6, LOC126861451
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FANCD2, LOC107303338
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IL18BP, NUMA1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
JAK1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
JAK1, LOC126805749
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KDM5A, NUP98
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KLK2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KMT2A, MLLT6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KMT2A, SEPTIN9
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC100128494, NUMA1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC100507346, PTCH1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC107303340, VHL
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC126805969, MIR181A1HG
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC126807619, NSD1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MDGA1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MLLT10
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MT-ND6
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NF1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NUP214
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PCF11
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PTEN
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RAD21
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
RASAL3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
RTEL1, RTEL1-TNFRSF6B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SF3B2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SH3GL1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
SLC9A2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SOX3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SUZ12
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
TEK
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
TGM6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TSC1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Invitae
|
13
|
1
|
583
|
270
|
13
|
0 |
0 |
880
|
Database of Curated Mutations (DoCM)
|
30
|
169
|
0 |
0 |
0 |
0 |
0 |
199
|
Baylor Genetics
|
3
|
2
|
136
|
1
|
0 |
0 |
0 |
142
|
Fulgent Genetics, Fulgent Genetics
|
4
|
3
|
61
|
24
|
5
|
0 |
0 |
97
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
11
|
23
|
0 |
0 |
34
|
Nadeem Sheikh Lab, University of the Punjab
|
7
|
6
|
19
|
0 |
0 |
0 |
0 |
32
|
OMIM
|
28
|
0 |
0 |
0 |
0 |
1
|
0 |
29
|
Ayesha Lab, University of the Punjab
|
0 |
6
|
11
|
0 |
6
|
0 |
0 |
23
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
10
|
11
|
0 |
0 |
0 |
0 |
0 |
21
|
Genomic Diagnostics Laboratory, National Institute of Medical Genomics
|
6
|
8
|
1
|
0 |
0 |
0 |
0 |
15
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
1
|
1
|
11
|
1
|
0 |
0 |
0 |
14
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
3
|
0 |
7
|
3
|
0 |
0 |
0 |
13
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
10
|
McDonnell Genome Institute, Washington University in St. Louis
|
2
|
0 |
7
|
0 |
0 |
0 |
0 |
9
|
Sung Lab, Department of Medicine, Roswell Park Comprehensive Cancer Center
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Fujian Institute of Hematology, Fujian Medical University
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
5
|
0 |
0 |
0 |
0 |
6
|
Hematological Lab, University of Education
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Bone Marrow Failure laboratory, Queen Mary University London
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
5
|
Genetic Services Laboratory, University of Chicago
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Revvity Omics, Revvity
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
4
|
Molecular Diagnostics Laboratory, University of Rochester Medical Center
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Cancer Genetics Lab, University of Education
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Mendelics
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Molecular Haematology Laboratory, NSW Health Pathology
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Godley laboratory, The University of Chicago
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Hematopathology, The University of Texas M.D. Anderson Cancer Center
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
INSERM UMR 1170, INSERM
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric Leukemia/Lymphoma, Memorial Sloan Kettering Cancer Center
|
1
|
0 |
0 |
0 |
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 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Malcovati Lab, University of Pavia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Zoology, Division of Science and Technology, University of Education
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Dr. Afia Zoology Lab, University of Education
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Shandong Key Laboratory of Immunohematology, Qilu Hospital, Shandong University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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information. If you have questions about the information
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