Variants studied for Acute myeloid leukemia

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
59	166	151	13	5	1	393

Gene and significance breakdown #

Total genes and gene combinations: 36

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
CEBPA	15	2	139	13	5	0	174
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	0	0	0	0	0	6
IDH1	6	0	0	0	0	0	6
KRAS	1	5	0	0	0	0	6
KIT	3	2	0	0	0	0	5
RUNX1	0	5	0	0	0	0	5
U2AF1	0	4	0	0	0	0	4
BRCA2	0	0	3	0	0	0	3
PTPN11	0	3	0	0	0	0	3
ETV6	2	0	0	0	0	0	2
GATA2	0	2	0	0	0	0	2
INSL6, JAK2	2	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
CDH1	0	0	1	0	0	0	1
CSF3R	0	1	0	0	0	0	1
DDX41	1	0	0	0	0	0	1
DICER1	0	0	1	0	0	0	1
JAK1	0	1	0	0	0	0	1
LOC100507346, PTCH1	0	0	1	0	0	0	1
MSH2	0	0	1	0	0	0	1
PAX5	0	0	1	0	0	0	1
SF3B2	0	1	0	0	0	0	1
TEK	0	1	0	0	0	0	1
TERT	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: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Database of Curated Mutations (DoCM)	30	162	0	0	0	0	192
Invitae	1	2	137	13	2	0	155
OMIM	26	0	0	0	0	0	26
Clinical Genomics Lab,St. Jude Children's Research Hospital	0	0	11	0	0	0	11
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
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
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

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