ClinVar Miner

Variants with conflicting interpretations studied for Transitional cell carcinoma of the bladder

Coded as:
Minimum review status of the submission for Transitional cell carcinoma of the bladder: Y axis collection method of the submission for Transitional cell carcinoma of the bladder:
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
1 133 3 99 0 7 49 142

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
Transitional cell carcinoma of the bladder pathogenic likely pathogenic uncertain significance likely benign drug response other
likely pathogenic 99 3 48 1 3 4

Condition to condition summary #

Total conditions: 86
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 15 0 17 0 0 30 46
not provided 0 11 3 32 0 0 6 41
Hereditary cancer-predisposing syndrome 0 26 0 20 0 0 15 34
Neoplasm of the large intestine 0 179 0 20 0 0 0 20
Cutaneous melanoma 0 7 0 18 0 0 0 18
Neoplasm of the breast 0 166 0 15 0 0 0 15
Non-small cell lung cancer 0 4 0 14 0 0 0 14
Li-Fraumeni syndrome 1 0 2 0 10 0 0 1 11
Breast adenocarcinoma 0 0 0 7 0 0 0 7
Carcinoma of colon 0 1 0 7 0 0 0 7
Ovarian Neoplasms 0 50 0 7 0 0 0 7
Neoplasm of ovary 0 0 0 6 0 0 0 6
Pilomatrixoma 0 0 0 6 0 0 0 6
Rasopathy 0 0 0 5 0 0 1 6
Acute myeloid leukemia 0 55 0 5 0 0 0 5
Epidermal nevus 0 0 0 5 0 0 0 5
Costello syndrome 0 1 0 4 0 0 0 4
Hepatocellular carcinoma 0 177 0 4 0 0 0 4
Keratosis, seborrheic 0 0 0 4 0 0 0 4
PIK3CA related overgrowth spectrum 0 1 0 4 0 0 0 4
Cardio-facio-cutaneous syndrome 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
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
Li-Fraumeni-like syndrome 0 0 0 3 0 0 0 3
Medulloblastoma 0 55 0 1 0 2 0 3
Nevus sebaceous 0 0 0 3 0 0 0 3
Non-Hodgkin lymphoma 0 12 0 3 0 0 0 3
Ovarian epithelial cancer 0 0 0 3 0 0 0 3
Thanatophoric dysplasia type 1 0 0 0 3 0 0 1 3
Achondroplasia; Camptodactyly, tall stature, and hearing loss syndrome; Carcinoma of cervix; Crouzon syndrome with acanthosis nigricans; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Bladder cancer, somatic; Hypochondroplasia; Epidermal nevus; Severe achondroplasia with developmental delay and acanthosis nigricans; Malignant tumor of testis; Carcinoma of colon 0 0 0 2 0 0 0 2
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
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
Epidermal nevus syndrome 0 0 0 2 0 0 0 2
Hepatoblastoma 0 0 0 2 0 0 0 2
Inborn genetic diseases 0 1 0 2 0 0 0 2
Malignant tumor of prostate 0 1 0 0 0 0 2 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 16 0 2 0 0 0 2
Neurocutaneous melanosis 0 0 0 2 0 0 0 2
not specified 0 3 0 2 0 0 0 2
ADRENAL CORTICAL NEOPLASM 0 0 0 0 0 1 0 1
Achondroplasia 0 0 0 1 0 0 0 1
Anaplastic thyroid carcinoma 0 0 0 1 0 0 0 1
Astrocytoma, anaplastic 0 0 0 1 0 0 0 1
Astrocytoma, anaplastic; Pleomorphic xanthoastrocytoma 0 0 0 1 0 0 0 1
Atypical teratoid/rhabdoid tumor 0 0 0 1 0 0 0 1
Bladder cancer, somatic 0 0 0 1 0 0 0 1
Carcinoma of cervix 0 0 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 1 0 0 0 1 0 0 0 1
Encephalocraniocutaneous lipomatosis 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
Follicular thyroid carcinoma 0 0 0 1 0 0 0 1
Glioblastoma multiforme, somatic 0 0 0 1 0 0 0 1
Hereditary cutaneous melanoma 0 0 0 0 0 0 1 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
Juvenile myelomonocytic leukemia 0 0 0 1 0 0 0 1
Lung adenocarcinoma 0 198 0 1 0 0 0 1
Lung cancer 0 1 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 Colorectal Neoplasm 0 0 0 1 0 0 0 1
Multiple myeloma 0 74 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
Noonan syndrome 6 0 0 0 1 0 0 0 1
Osteosarcoma 0 1 0 1 0 0 0 1
PARP Inhibitor response 0 0 0 0 0 1 0 1
PTEN hamartoma tumor syndrome 0 0 0 0 0 0 1 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
Proteus syndrome 0 0 0 1 0 0 0 1
RAS Inhibitor response 0 0 0 0 0 1 0 1
RAS-associated autoimmune leukoproliferative disorder 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
Sarcoma 0 1 0 1 0 0 0 1
Skeletal dysplasia with acanthosis nigricans 0 0 0 1 0 0 0 1
Skeletal dysplasia; Short stature; Growth delay; Short ribs; Narrow chest; Small for gestational age; Bell-shaped thorax; Femoral bowing; Bowed humerus; Disproportionate short-limb short stature; Lethal short-limbed short stature; Lower limb undergrowth; Upper limb undergrowth 0 0 0 1 0 0 0 1
Wilms Tumor 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 142
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HGVS dbSNP
NM_000077.4(CDKN2A):c.247C>T (p.His83Tyr) rs121913385
NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000314.6(PTEN):c.698G>A (p.Arg233Gln) rs770025422
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.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.403T>G (p.Cys135Gly) rs1057519975
NM_000546.5(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.5(TP53):c.431A>C (p.Gln144Pro) rs786203071
NM_000546.5(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.5(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.5(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.5(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.5(TP53):c.452C>G (p.Pro151Arg) rs1057520000
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.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.578A>T (p.His193Leu) rs786201838
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.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.5(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.5(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.5(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.5(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.5(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
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.722C>T (p.Ser241Phe) rs28934573
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.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_000546.5(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.5(TP53):c.734G>A (p.Gly245Asp) rs121912656
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.797G>T (p.Gly266Val) rs193920774
NM_000546.5(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.5(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.5(TP53):c.815T>G (p.Val272Gly) rs876660333
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.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.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_000546.5(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.5(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.5(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_001005862.2(ERBB2):c.2173_2174delTTinsCC (p.Leu725Pro) rs121913469
NM_001005862.2(ERBB2):c.2215G>T (p.Asp739Tyr) rs121913468
NM_001126115.1(TP53):c.401G>A (p.Gly134Glu) rs193920774
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_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.133T>C (p.Ser45Pro) rs121913407
NM_001904.3(CTNNB1):c.134C>A (p.Ser45Tyr) rs121913409
NM_001904.3(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_001904.3(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.3(CTNNB1):c.95A>G (p.Asp32Gly) rs121913396
NM_001904.3(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_001904.3(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_001904.3(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
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.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.37G>C (p.Gly13Arg) rs121434595
NM_002524.4(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.3(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_004333.4(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.4(BRAF):c.1406G>C (p.Gly469Ala) rs121913355
NM_004333.4(BRAF):c.1406G>T (p.Gly469Val) rs121913355
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.1786G>C (p.Gly596Arg) rs121913361
NM_004333.5(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.5(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004380.2(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004448.3(ERBB2):c.2305G>C (p.Asp769His) rs121913468
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_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005896.3(IDH1):c.395G>T (p.Arg132Leu) rs121913500
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.3129G>A (p.Met1043Ile) rs121913283
NM_006218.3(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.3(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
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_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_033360.3(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_033632.3(FBXW7):c.1514G>A (p.Arg505His) rs1057519896
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229

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