ClinVar Miner

Variants studied for Acute myeloid leukemia

Coded as:
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 not provided total
109 196 731 284 44 13 1357

Gene and significance breakdown #

Total genes and gene combinations: 45
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEBPA 32 15 570 259 13 11 889
TP53 12 67 11 0 7 0 97
RUNX1 5 10 50 3 10 0 75
GATA2 0 3 44 0 0 0 47
CEBPA, LOC130064183 0 0 32 11 0 0 43
FLT3 11 27 0 0 0 1 38
NPM1 7 4 12 2 0 0 25
TERT 1 1 1 9 13 0 25
NRAS 1 15 0 0 0 0 15
HRAS, LRRC56 0 13 0 0 0 0 13
SF3B1 1 13 0 0 0 0 13
DNMT3A 7 3 1 0 0 0 10
IDH2 6 2 0 0 0 0 8
IDH1 6 0 1 0 0 0 7
KRAS 2 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
PTPN11 0 3 0 0 0 0 3
ETV6 1 0 0 0 0 1 2
INSL6, JAK2 2 1 0 0 0 0 2
LPP 1 0 1 0 0 0 2
WT1 0 1 1 0 0 0 2
​intergenic 1 0 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 1
BCOR 1 0 0 0 0 0 1
CBFB 0 0 1 0 0 0 1
CEBPA, GPATCH1, LRP3, RHPN2, SLC7A10, WDR88 0 0 1 0 0 0 1
CSF3R 0 1 0 0 0 0 1
ETV6, LOC126861451 1 0 0 0 0 0 1
FANCD2, LOC107303338 1 0 0 0 0 0 1
JAK1, LOC126805749 0 1 0 0 0 0 1
KLK2 1 0 0 0 0 0 1
LOC100507346, PTCH1 0 0 1 0 0 0 1
LOC129934333, TMEM127 0 0 1 0 0 0 1
MFSD11, SRSF2 1 0 0 0 0 0 1
MLLT10 0 0 1 0 0 0 1
NSD1 1 0 0 0 0 0 1
NUP214 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
SH3GL1 0 0 0 0 1 0 1
TEK 0 1 0 0 0 0 1
TGM6 1 0 0 0 0 0 1
TSC1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 1 583 270 13 0 880
Database of Curated Mutations (DoCM) 30 162 0 0 0 0 192
Baylor Genetics 2 1 136 1 0 0 140
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 11 23 0 34
Nadeem Sheikh Lab, University of the Punjab 7 6 19 0 0 0 32
OMIM 26 0 0 0 0 0 26
Ayesha Lab, University of the Punjab 0 6 11 0 6 0 23
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 6 8 1 0 0 0 15
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 9 1 0 0 11
GeneReviews 0 0 0 0 0 10 10
Fulgent Genetics, Fulgent Genetics 0 0 8 2 0 0 10
Sung Lab, Department of Medicine, Roswell Park Comprehensive Cancer Center 7 0 0 0 0 0 7
Johns Hopkins Genomics, Johns Hopkins University 0 1 5 0 0 0 6
Hematological Lab, University of Education 6 0 0 0 0 0 6
Bone Marrow Failure laboratory, Queen Mary University London 2 3 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 4
Revvity Omics, Revvity Omics 0 0 4 0 0 0 4
Molecular Diagnostics Laboratory, University of Rochester Medical Center 4 0 0 0 0 0 4
Cancer Genetics Lab, University of Education 4 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 2 0 0 0 0 3
Mendelics 1 1 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 1 0 0 0 2
Godley laboratory, The University of Chicago 2 0 0 0 0 0 2
Hematopathology, The University of Texas M.D. Anderson Cancer Center 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 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
Genome-Nilou Lab 0 0 0 0 1 0 1
Malcovati Lab, University of Pavia 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Department of Zoology, Division of Science and Technology, University of Education 1 0 0 0 0 0 1
Dr. Afia Zoology Lab, University of Education 0 0 0 0 1 0 1
Shandong Key Laboratory of Immunohematology, Qilu Hospital, Shandong University 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.