ClinVar Miner

Variants studied for Acute myeloid leukemia

Coded as:
Minimum submission review status: Collection method:
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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
64 171 231 60 11 1 535

Gene and significance breakdown #

Total genes and gene combinations: 35
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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 #

Total submitters: 19
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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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