ClinVar Miner

Variants with conflicting interpretations studied for Chronic lymphocytic leukemia

Coded as:
Minimum review status of the submission for Chronic lymphocytic leukemia: Y axis collection method of the submission for Chronic lymphocytic 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
3 52 0 34 0 1 20 49

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
Chronic lymphocytic leukemia pathogenic uncertain significance drug response
likely pathogenic 34 20 1

Condition to condition summary #

Total conditions: 33
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
Li-Fraumeni syndrome 0 7 0 9 0 0 11 20
not provided 0 5 0 14 0 0 3 16
Hereditary cancer-predisposing syndrome 0 9 0 10 0 0 5 14
Cutaneous melanoma 0 2 0 8 0 0 0 8
Non-small cell lung cancer 0 2 0 6 0 0 0 6
Li-Fraumeni syndrome 1 0 0 0 3 0 0 1 4
Neoplasm of the large intestine 0 61 0 4 0 0 0 4
Rasopathy 0 2 0 2 0 0 1 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 colon 0 1 0 2 0 0 0 2
Congenital giant melanocytic nevus 0 0 0 2 0 0 0 2
Epidermal nevus 0 0 0 2 0 0 0 2
Epidermal nevus syndrome 0 0 0 2 0 0 0 2
Follicular thyroid carcinoma 0 0 0 2 0 0 0 2
Neoplasm of the thyroid gland 0 10 0 2 0 0 0 2
Neurocutaneous melanosis 0 0 0 2 0 0 0 2
Anaplastic thyroid carcinoma 0 0 0 1 0 0 0 1
Congenital giant melanocytic nevus; Epidermal nevus syndrome; Bladder cancer, somatic; Costello syndrome; Epidermal nevus; Follicular thyroid carcinoma 0 0 0 1 0 0 0 1
Costello syndrome 0 1 0 1 0 0 0 1
Li-Fraumeni-like syndrome 0 0 0 1 0 0 0 1
Macroglobulinemia, waldenstrom, somatic 0 0 0 1 0 0 0 1
Malignant Colorectal Neoplasm 0 0 0 1 0 0 0 1
Malignant tumor of prostate 0 0 0 0 0 0 1 1
Myd88 deficiency 0 0 0 0 0 0 1 1
NEVUS SPILUS, SOMATIC 0 0 0 1 0 0 0 1
Nevus sebaceous 0 0 0 1 0 0 0 1
Non-Hodgkin lymphoma 0 1 0 1 0 0 0 1
Noonan syndrome 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
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
not specified 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 49
Download table as spreadsheet
HGVS dbSNP
NM_000546.5(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.5(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.5(TP53):c.523C>T (p.Arg175Cys) rs138729528
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.641A>G (p.His214Arg) rs1057519992
NM_000546.5(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.5(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_000546.5(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.5(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.5(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_000546.5(TP53):c.725G>A (p.Cys242Tyr) rs121912655
NM_000546.5(TP53):c.725G>T (p.Cys242Phe) rs121912655
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.764T>A (p.Ile255Asn) rs876659675
NM_000546.5(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_000546.5(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_000546.5(TP53):c.817C>A (p.Arg273Ser) 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.824G>A (p.Cys275Tyr) rs863224451
NM_000546.5(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.5(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.5(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.5(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_001126115.1(TP53):c.401G>A (p.Gly134Glu) rs193920774
NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) rs387907272
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_002524.4(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.4(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002834.4(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.4(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_004333.4(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.4(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.4(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.4(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.4(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004333.5(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_005343.2(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.3(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_033360.3(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_033632.3(FBXW7):c.1514G>A (p.Arg505His) rs1057519896

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