ClinVar Miner

Variants with conflicting interpretations studied for Uterine cervical neoplasms

Coded as:
Minimum review status of the submission for Uterine cervical neoplasms: Y axis collection method of the submission for Uterine cervical neoplasms:
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
0 68 2 50 0 2 16 64

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
Uterine cervical neoplasms pathogenic likely pathogenic uncertain significance drug response other
likely pathogenic 50 2 16 1 1

Condition to condition summary #

Total conditions: 60
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
Neoplasm of the breast 0 68 0 15 0 0 0 15
Neoplasm of the large intestine 0 86 0 14 0 0 0 14
not provided 0 5 2 10 0 0 2 14
Li-Fraumeni syndrome 0 2 0 1 0 0 9 10
Hereditary cancer-predisposing syndrome 0 4 0 6 0 0 4 9
Ovarian Neoplasms 0 11 0 9 0 0 0 9
Non-small cell lung cancer 0 1 0 7 0 0 0 7
Costello syndrome 0 1 0 6 0 0 0 6
Neoplasm of ovary 0 0 0 6 0 0 0 6
Breast adenocarcinoma 0 0 0 5 0 0 0 5
Carcinoma of colon 0 0 0 5 0 0 0 5
Pilomatrixoma 0 0 0 4 0 0 0 4
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
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 0 0 0 3 0 0 0 3
Cowden syndrome 0 0 0 2 0 0 1 3
Epidermal nevus 0 0 0 3 0 0 0 3
McCune-Albright syndrome 0 0 0 3 0 0 0 3
Nevus sebaceous 0 0 0 3 0 0 0 3
Ovarian epithelial cancer 0 0 0 3 0 0 0 3
PIK3CA related overgrowth spectrum 0 1 0 3 0 0 0 3
PTEN hamartoma tumor syndrome 0 0 0 1 0 0 2 3
Rasopathy 0 0 0 3 0 0 0 3
Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 0 0 0 2 0 0 0 2
Cowden syndrome 5 0 0 0 2 0 0 0 2
Cushing's syndrome 0 0 0 2 0 0 0 2
Cutaneous melanoma 0 4 0 2 0 0 0 2
Focal cortical dysplasia type II 0 0 0 2 0 0 0 2
Hepatocellular carcinoma 0 55 0 2 0 0 0 2
Inborn genetic diseases 0 1 0 2 0 0 0 2
JP and JP/HHT 0 0 0 2 0 0 0 2
Juvenile polyposis syndrome 0 1 0 2 0 0 0 2
Keratosis, seborrheic 0 0 0 2 0 0 0 2
Megalencephaly cutis marmorata telangiectatica congenita 0 0 0 2 0 0 0 2
Neoplasm of stomach 0 2 0 2 0 0 0 2
Neoplasm of the thyroid gland 0 5 0 2 0 0 0 2
PITUITARY ADENOMA 3, MULTIPLE TYPES 0 0 0 2 0 0 0 2
Sex cord-stromal tumor 0 0 0 2 0 0 0 2
Cowden syndrome 1 0 0 0 1 0 0 0 1
Endometrial carcinoma 0 0 0 1 0 0 0 1
Epidermal nevus syndrome 0 0 0 1 0 0 0 1
Epidermal nevus with urothelial cancer, somatic 0 0 0 1 0 0 0 1
Familial cancer of breast; Megalencephaly cutis marmorata telangiectatica congenita; Lung cancer; Congenital macrodactylia; Keratosis, seborrheic; Epidermal nevus; Neoplasm of ovary; Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth; Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma 0 0 0 1 0 0 0 1
Hepatoblastoma 0 0 0 1 0 0 0 1
Histone Methylation Therapy response 0 0 0 0 0 1 0 1
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 0 0 0 1 0 0 0 1
JP, JP/HHT, and HHT 0 0 0 1 0 0 0 1
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 0 0 1 0 0 0 1
MACRODACTYLY, SOMATIC 0 0 0 1 0 0 0 1
Macrodactyly of toe; Stroke 0 0 0 1 0 0 0 1
Malignant tumor of prostate 0 1 0 0 0 0 1 1
Medulloblastoma 0 32 0 0 0 1 0 1
Myhre syndrome; Juvenile polyposis syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas 0 0 0 1 0 0 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
Nevus, woolly hair 0 0 0 1 0 0 0 1
Noonan syndrome 0 0 0 1 0 0 0 1
Proteus syndrome 0 0 0 1 0 0 0 1
Rosette-forming glioneuronal tumor 0 0 0 1 0 0 0 1
SPITZ NEVUS, SOMATIC 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 64
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HGVS dbSNP
NM_000314.4(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.6(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.6(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.6(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000516.5(GNAS):c.601C>T (p.Arg201Cys) rs11554273
NM_000516.5(GNAS):c.602G>A (p.Arg201His) rs121913495
NM_000516.5(GNAS):c.602G>T (p.Arg201Leu) rs121913495
NM_000546.5(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.5(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_000546.5(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.5(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_000546.5(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_000546.5(TP53):c.581T>G (p.Leu194Arg) rs1057519998
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.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_001005862.2(ERBB2):c.2215G>T (p.Asp739Tyr) rs121913468
NM_001126115.1(TP53):c.443G>T (p.Arg148Ile) rs121912660
NM_001313904.1(NFE2L2):c.6G>A (p.Lys2=) rs1057519922
NM_001904.3(CTNNB1):c.110C>A (p.Ser37Tyr) rs121913403
NM_001904.3(CTNNB1):c.110C>G (p.Ser37Cys) rs121913403
NM_001904.3(CTNNB1):c.110C>T (p.Ser37Phe) rs121913403
NM_001904.3(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.3(CTNNB1):c.95A>G (p.Asp32Gly) rs121913396
NM_004380.2(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004448.3(ERBB2):c.2305G>C (p.Asp769His) rs121913468
NM_004958.3(MTOR):c.6644C>A (p.Ser2215Tyr) rs587777894
NM_004958.3(MTOR):c.6644C>T (p.Ser2215Phe) rs587777894
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
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_005359.5(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_006218.2(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006218.3(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006218.3(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.3(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.3(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.3(PIK3CA):c.1636C>G (p.Gln546Glu) rs121913286
NM_006218.3(PIK3CA):c.1637A>T (p.Gln546Leu) rs397517201
NM_006218.3(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.3(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
NM_006218.3(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro) rs397517201
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_033632.3(FBXW7):c.1514G>A (p.Arg505His) rs1057519896
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229

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