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
90 37 838 285 45 13 1291

Gene and significance breakdown #

Total genes and gene combinations: 37
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEBPA 34 16 603 260 13 11 924
RUNX1 5 6 87 3 10 0 109
GATA2 0 1 78 0 0 0 79
CEBPA, LOC130064183 0 0 32 11 0 0 43
TP53 12 6 11 0 7 0 36
TERT 1 1 1 9 13 0 25
NPM1 7 0 12 2 0 0 21
FLT3 7 1 0 0 0 1 9
DNMT3A 3 3 2 0 0 0 7
DDX41 2 2 0 0 0 0 4
LPP 1 0 2 0 0 0 3
ETV6 1 0 0 0 0 1 2
IDH1 1 0 1 0 0 0 2
INSL6, JAK2 2 0 0 0 0 0 2
KRAS 2 0 0 0 0 0 2
MLLT10 0 0 2 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
ETV6, LOC126861451 1 0 0 0 0 0 1
FANCD2, LOC107303338 1 0 0 0 0 0 1
KIT 1 0 0 0 0 0 1
KLK2 1 0 0 0 1 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
NRAS 1 0 0 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
SF3B1 1 0 0 0 0 0 1
SH3GL1 0 0 0 0 1 0 1
TGM6 1 0 0 0 0 0 1
TSC1 0 0 1 0 0 0 1
WT1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 14 2 606 271 13 0 906
Baylor Genetics 2 2 242 1 0 0 247
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 11 1 0 0 13
Fulgent Genetics, Fulgent Genetics 0 0 8 2 0 0 10
GeneReviews 0 0 0 0 0 10 10
Sung Lab, Department of Medicine, Roswell Park Comprehensive Cancer Center 7 0 0 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 6
Hematological Lab, University of Education 6 0 0 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 0 1 5 0 0 0 6
Bone Marrow Failure laboratory, Queen Mary University London 2 3 0 0 0 0 5
Cancer Genetics Lab, University of Education 4 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 4
Molecular Diagnostics Laboratory, University of Rochester Medical Center 4 0 0 0 0 0 4
Revvity Omics, Revvity 0 0 4 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 2 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 1 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 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
Mendelics 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
3billion 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 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
Eleanor M. Freitas Health Laboratory 0 0 0 0 1 0 1
Fujian Institute of Hematology, Fujian Medical University 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
INSERM UMR 1170, INSERM 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 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
Malcovati Lab, University of Pavia 0 0 1 0 0 0 1
Molecular Haematology Laboratory, NSW Health Pathology 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.