ClinVar Miner

Variants with conflicting interpretations studied for Cutaneous melanoma

Coded as:
Minimum review status of the submission for Cutaneous melanoma: Y axis collection method of the submission for Cutaneous melanoma:
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
76 16 1 71 0 6 9 78

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
Cutaneous melanoma pathogenic likely pathogenic uncertain significance drug response risk factor other
pathogenic 0 49 5 1 1 2
likely pathogenic 22 1 4 0 2 0

Condition to condition summary #

Total conditions: 65
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
Malignant melanoma of skin 0 17 0 26 0 0 0 26
Multiple myeloma 0 7 0 20 0 0 0 20
Acute myeloid leukemia 0 0 0 18 0 0 0 18
Malignant neoplasm of body of uterus 0 8 0 18 0 0 0 18
Transitional cell carcinoma of the bladder 0 7 0 18 0 0 0 18
Neoplasm of the large intestine 0 14 0 17 0 0 0 17
Adenocarcinoma of stomach 0 9 0 16 0 0 0 16
Gastrointestinal stroma tumor 0 4 0 14 0 0 3 16
Lung adenocarcinoma 0 14 0 15 0 0 0 15
not provided 0 17 1 11 0 0 0 12
Adrenocortical carcinoma 0 1 0 11 0 0 0 11
Hepatocellular carcinoma 0 5 0 10 0 0 0 10
Myelodysplastic syndrome 0 0 0 9 0 0 0 9
Neoplasm of brain 0 1 0 9 0 0 0 9
Chronic lymphocytic leukemia 0 2 0 8 0 0 0 8
Adenocarcinoma of prostate 0 9 0 7 0 0 0 7
Non-small cell lung cancer 0 16 0 7 0 0 0 7
Glioblastoma 0 2 0 6 0 0 0 6
Rasopathy 0 3 0 3 0 0 3 6
Medulloblastoma 0 4 0 5 0 0 0 5
Nasopharyngeal Neoplasms 0 1 0 5 0 0 0 5
Ovarian Serous Cystadenocarcinoma 0 2 0 5 0 0 0 5
Renal cell carcinoma, papillary, 1 0 1 0 5 0 0 0 5
Cardio-facio-cutaneous syndrome 0 3 0 4 0 0 0 4
Intraocular melanoma 0 0 0 4 0 0 0 4
Neoplasm of the thyroid gland 0 2 0 4 0 0 0 4
Non-Hodgkin lymphoma 0 2 0 4 0 0 0 4
Squamous cell carcinoma of the head and neck 0 7 0 4 0 0 0 4
Gastrointestinal stromal tumor, familial 0 0 0 3 0 0 0 3
Neoplasm 0 4 0 3 0 0 0 3
not specified 0 0 0 1 0 0 2 3
Carcinoma of colon 0 2 0 2 0 0 0 2
Carcinoma of esophagus 0 1 0 2 0 0 0 2
Cardiofaciocutaneous syndrome 1 0 0 0 2 0 0 0 2
Cutaneous malignant melanoma 2 0 0 0 0 0 2 0 2
Disease 0 0 0 2 0 0 0 2
Epidermal nevus 0 2 0 2 0 0 0 2
Thymoma 0 3 0 2 0 0 0 2
Uterine cervical neoplasms 0 4 0 2 0 0 0 2
Autism spectrum disorder 0 0 0 1 0 0 0 1
Bladder cancer, somatic 0 0 0 1 0 0 0 1
Brainstem glioma 0 1 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 3 0 0 0 1 0 0 0 1
Chronic myelogenous leukemia 0 1 0 1 0 0 0 1
Costello syndrome 0 0 0 1 0 0 0 1
Cutaneous malignant melanoma 1 0 0 0 1 0 0 0 1
Cutaneous malignant melanoma 3 0 0 0 0 0 1 0 1
Cutaneous mastocytosis 0 0 0 1 0 0 0 1
Dysgerminoma 0 0 0 0 0 1 0 1
Follicular thyroid carcinoma 0 1 0 1 0 0 0 1
Hematologic neoplasm 0 2 0 1 0 0 0 1
Hepatoblastoma 0 0 0 1 0 0 0 1
MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC 0 0 0 1 0 0 0 1
Malignant tumor of prostate 0 0 0 0 0 0 1 1
Myopathy, congenital, with excess of muscle spindles 0 0 0 1 0 0 0 1
Neoplasm of stomach 0 0 0 1 0 0 0 1
Neoplasm of the breast 0 0 0 1 0 0 0 1
Neoplasm of the colon 0 1 0 1 0 0 0 1
Noonan syndrome 0 1 0 1 0 0 0 1
Ovarian Neoplasms 0 2 0 1 0 0 0 1
Papillary renal cell carcinoma, sporadic 0 2 0 1 0 0 0 1
Pilomatrixoma 0 1 0 1 0 0 0 1
RAS Inhibitor response 0 0 0 0 0 1 0 1
Vascular Tumors Including Pyogenic Granuloma 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: 78
Download table as spreadsheet
HGVS dbSNP
NM_000075.3(CDK4):c.71G>A (p.Arg24His) rs104894340
NM_000077.4(CDKN2A):c.238C>T (p.Arg80Ter) rs121913388
NM_000077.4(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000222.2(KIT):c.1669T>A (p.Trp557Arg) rs121913235
NM_000222.2(KIT):c.1669T>C (p.Trp557Arg) rs121913235
NM_000222.2(KIT):c.1674G>T (p.Lys558Asn) rs200375589
NM_000222.2(KIT):c.1676T>A (p.Val559Asp) rs121913517
NM_000222.2(KIT):c.1676T>C (p.Val559Ala) rs121913517
NM_000222.2(KIT):c.1676T>G (p.Val559Gly) rs121913517
NM_000222.2(KIT):c.1679T>A (p.Val560Asp) rs121913521
NM_000222.2(KIT):c.1679T>G (p.Val560Gly) rs121913521
NM_000222.2(KIT):c.1679_1681del (p.Val560del) rs121913685
NM_000222.2(KIT):c.1727T>C (p.Leu576Pro) rs121913513
NM_000222.2(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000222.2(KIT):c.1961T>C (p.Val654Ala) rs121913523
NM_000222.2(KIT):c.1964A>G (p.Asn655Ser) rs1057519707
NM_000222.2(KIT):c.1965T>G (p.Asn655Lys) rs1057519708
NM_000222.2(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.2(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000222.2(KIT):c.2465A>T (p.Asn822Ile) rs993022333
NM_000222.2(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000222.2(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000222.2(KIT):c.2485G>C (p.Ala829Pro) rs1057519713
NM_000455.4(STK11):c.580G>T (p.Asp194Tyr) rs121913315
NM_001904.3(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.3(CTNNB1):c.110C>A (p.Ser37Tyr) 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.95A>G (p.Asp32Gly) rs121913396
NM_002067.4(GNA11):c.626A>C (p.Gln209Pro) rs1057519742
NM_002067.4(GNA11):c.626A>T (p.Gln209Leu) rs1057519742
NM_002072.4(GNAQ):c.626A>C (p.Gln209Pro) rs121913492
NM_002072.4(GNAQ):c.626A>T (p.Gln209Leu) rs121913492
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_002755.3(MAP2K1):c.167A>C (p.Gln56Pro) rs1057519729
NM_002755.3(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.3(MAP2K1):c.362G>C (p.Cys121Ser) rs1057519731
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.3(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002880.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_004333.4(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.4(BRAF):c.1411G>T (p.Val471Phe) rs121913376
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_004333.4(BRAF):c.1790T>G (p.Leu597Arg) rs121913366
NM_004333.4(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.5(BRAF):c.1390G>A (p.Gly464Arg) rs121913349
NM_004333.5(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.5(BRAF):c.1756G>A (p.Glu586Lys) rs121913340
NM_004333.5(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.5(BRAF):c.1785T>A (p.Phe595Leu) rs121913341
NM_004333.5(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.5(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.5(BRAF):c.1790T>A (p.Leu597Gln) rs121913366
NM_004333.5(BRAF):c.1798G>A (p.Val600Met) rs121913378
NM_004333.5(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.5(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_005343.2(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_006218.3(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274

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