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 37 834 285 45 13 1288

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEBPA 34 16 602 260 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 1 0 0 0 6
DDX41 2 2 0 0 0 0 4
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
LPP 1 0 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
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
MLLT10 0 0 1 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: 45
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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
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 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 1 0 3
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
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 1
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, Medical Genetics 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 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
Eleanor M. Freitas Health Laboratory 0 0 0 0 1 0 1

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