ClinVar Miner

Variants with conflicting interpretations studied for Acute myeloid leukemia

Coded as:
Minimum review status of the submission for Acute myeloid leukemia: Y axis collection method of the submission for Acute myeloid leukemia:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
219 65 1 70 2 5 27 94

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Acute myeloid leukemia pathogenic likely pathogenic uncertain significance likely benign benign affects drug response risk factor other
pathogenic 1 17 2 0 0 1 0 2 1
likely pathogenic 51 0 25 0 0 1 1 2 0
uncertain significance 0 0 0 2 1 0 0 0 0
benign 0 0 0 4 0 0 0 0 0

Condition to condition summary #

Total conditions: 81
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not provided 0 9 0 27 0 0 2 28
Li-Fraumeni syndrome 0 6 0 9 0 0 18 27
Neoplasm of the large intestine 0 73 0 22 0 0 0 22
Cutaneous melanoma 0 0 0 18 0 0 0 18
Hereditary cancer-predisposing syndrome 0 18 0 9 1 0 4 14
Non-small cell lung cancer 0 1 0 14 0 0 0 14
Myelodysplastic syndrome 0 23 0 11 0 1 0 12
Lung adenocarcinoma 0 82 0 8 0 0 0 8
Multiple myeloma 0 48 0 8 0 0 0 8
Brainstem glioma 0 23 0 7 0 0 0 7
Hepatocellular carcinoma 0 75 0 7 0 0 0 7
Neoplasm of brain 0 65 0 7 0 0 0 7
Costello syndrome 0 1 0 6 0 0 0 6
Rasopathy 0 1 0 5 0 0 1 6
not specified 0 8 0 5 1 0 0 6
Adenocarcinoma of prostate 0 34 0 5 0 0 0 5
Adenoid cystic carcinoma 0 3 0 5 0 0 0 5
Epidermal nevus 0 0 0 5 0 0 0 5
Glioblastoma 0 36 0 5 0 0 0 5
Juvenile myelomonocytic leukemia 0 0 0 5 0 0 0 5
Li-Fraumeni syndrome 1 0 2 0 4 0 0 1 5
Malignant melanoma of skin 0 57 0 5 0 0 0 5
Medulloblastoma 0 15 0 5 0 0 0 5
Neoplasm of the breast 0 70 0 5 0 0 0 5
Neoplasm of the thyroid gland 0 10 0 5 0 0 0 5
Nevus sebaceous 0 0 0 5 0 0 0 5
Transitional cell carcinoma of the bladder 0 55 0 5 0 0 0 5
Acute myeloid leukemia 362 13 1 2 0 0 0 3
Astrocytoma 0 0 0 3 0 0 0 3
Congenital giant melanocytic nevus 0 0 0 3 0 0 0 3
Congenital giant melanocytic nevus; Epidermal nevus syndrome; Bladder cancer, somatic; Costello syndrome; Epidermal nevus; Follicular thyroid carcinoma 0 0 0 3 0 0 0 3
Epidermal nevus syndrome 0 0 0 3 0 0 0 3
Gastrointestinal stroma tumor 0 1 0 2 0 0 2 3
Ovarian Neoplasms 0 21 0 3 0 0 0 3
RAS-associated autoimmune leukoproliferative disorder 0 0 0 3 0 0 0 3
Squamous cell carcinoma of the head and neck 0 66 0 3 0 0 0 3
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma 0 0 0 2 0 0 0 2
Carcinoma of pancreas 0 0 0 2 0 0 0 2
Cerebral arteriovenous malformation 0 0 0 2 0 0 0 2
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 0 0 0 2 0 0 0 2
Hematologic neoplasm 0 0 0 2 0 0 0 2
Leukemia, acute myeloid, susceptibility to 0 0 0 1 0 1 0 2
Malignant tumor of prostate 0 0 0 0 0 0 2 2
Myelodysplastic syndrome progressed to acute myeloid leukemia 0 1 0 2 0 0 0 2
Neurocutaneous melanosis 0 0 0 2 0 0 0 2
Noonan syndrome 0 0 0 2 0 0 0 2
Anaplastic thyroid carcinoma 0 0 0 1 0 0 0 1
Breast adenocarcinoma 0 0 0 1 0 0 0 1
Breast-ovarian cancer, familial 2 0 1 0 0 1 0 0 1
Budd-Chiari syndrome 0 0 0 1 0 0 0 1
Budd-Chiari syndrome, susceptibility to, somatic 0 0 0 0 0 1 0 1
Carcinoma of colon 0 1 0 1 0 0 0 1
Dysgerminoma 0 0 0 0 0 1 0 1
Early T cell progenitor acute lymphoblastic leukemia 0 0 0 1 0 0 0 1
Epidermal nevus with urothelial cancer, somatic 0 0 0 1 0 0 0 1
Familial erythrocytosis, 1 0 0 0 0 0 1 0 1
Familial erythrocytosis, 1; Polycythemia vera; Budd-Chiari syndrome; Myelofibrosis; Acute myeloid leukemia; Thrombocythemia 3 0 0 0 1 0 0 0 1
Follicular thyroid carcinoma 0 0 0 1 0 0 0 1
Hereditary breast and ovarian cancer syndrome 0 1 0 0 1 0 0 1
Inborn genetic diseases 0 1 0 1 0 0 0 1
Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 0 0 0 1 0 0 0 1
Malignant Colorectal Neoplasm 0 0 0 1 0 0 0 1
Mast cell leukemia 0 0 0 1 0 0 0 1
Myelofibrosis 0 1 0 1 0 0 0 1
Myeloproliferative disorder 0 0 0 1 0 0 0 1
Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to 0 0 0 0 0 1 0 1
Myopathy, congenital, with excess of muscle spindles 0 0 0 1 0 0 0 1
NEVUS SPILUS, SOMATIC 0 0 0 1 0 0 0 1
Nasopharyngeal carcinoma 0 0 0 1 0 0 0 1
Neoplasm of ovary 0 0 0 1 0 0 0 1
Neoplasm of stomach 0 0 0 1 0 0 0 1
Neuroblastoma 3 0 0 0 0 1 0 0 1
Nevus, woolly hair 0 0 0 1 0 0 0 1
Noonan syndrome 6 0 0 0 1 0 0 0 1
Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue 0 0 0 1 0 0 0 1
Polycythemia vera 0 1 0 1 0 0 0 1
RAS Inhibitor response 0 0 0 0 0 1 0 1
SPITZ NEVUS, SOMATIC 0 0 0 1 0 0 0 1
Sarcoma 0 0 0 1 0 0 0 1
Tatton-Brown-rahman syndrome 0 1 0 0 0 0 1 1
Thrombocythemia 3 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 94
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712
NM_000222.2(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000222.2(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.2(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000222.2(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000546.5(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.5(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.5(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.5(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.5(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.5(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.5(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.5(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_000546.5(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_000546.5(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.5(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.5(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.5(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.5(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.5(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.5(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.5(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.5(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.5(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.5(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.5(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.5(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.5(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_001126115.1(TP53):c.443G>T (p.Arg148Ile) rs121912660
NM_001282386.1(IDH1):c.395G>A (p.Arg132His) rs121913500
NM_001282387.1(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_001282387.1(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_001282387.1(IDH1):c.394C>T (p.Arg132Cys) rs121913499
NM_001289910.1(IDH2):c.359G>A (p.Arg120Lys) rs121913503
NM_001289910.1(IDH2):c.359G>T (p.Arg120Met) rs121913503
NM_002168.3(IDH2):c.418C>T (p.Arg140Trp) rs267606870
NM_002168.3(IDH2):c.419G>A (p.Arg140Gln) rs121913502
NM_002168.3(IDH2):c.419G>T (p.Arg140Leu) rs121913502
NM_002524.3(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.3(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.3(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.3(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.3(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.3(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.3(NRAS):c.35G>A (p.Gly12Asp) rs121913237
NM_002524.3(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.3(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.4(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.4(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.4(NRAS):c.183A>C (p.Gln61His) rs121913255
NM_002524.4(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.4(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.4(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002834.4(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.4(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_004119.2(FLT3):c.2503_2505del (p.Asp835del) rs121913486
NM_004304.4(ALK):c.1283-5T>C rs377214413
NM_004364.4(CEBPA):c.402G>A (p.Ala134=) rs752254340
NM_004364.4(CEBPA):c.584_589dupACCCGC (p.Pro196_Pro197insHisPro) rs762459325
NM_004364.4(CEBPA):c.68delC (p.Pro23Argfs) rs137852728
NM_004364.4(CEBPA):c.693C>G (p.Pro231=) rs550308123
NM_004364.4(CEBPA):c.756G>T (p.Ala252=) rs571969199
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_004985.4(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004985.4(KRAS):c.35G>A (p.Gly12Asp) rs121913529
NM_004985.4(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_005343.2(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.2(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.2(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.3(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.3(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.3(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005896.3(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_012433.3(SF3B1):c.1998G>T (p.Lys666Asn) rs377023736
NM_016222.3(DDX41):c.415_418dup (p.Asp140Glyfs) rs762890562
NM_032638.4(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_032638.4(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_033360.3(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_033360.3(KRAS):c.38G>A (p.Gly13Asp) rs112445441
NM_153759.3(DNMT3A):c.2077C>T (p.Arg693Cys) rs377577594
NM_156039.3(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_175629.2(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_175629.2(DNMT3A):c.2645G>C (p.Arg882Pro) rs147001633
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229

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