ClinVar Miner

Variants with conflicting interpretations studied for Squamous cell carcinoma of the skin

Coded as:
Minimum review status of the submission for Squamous cell carcinoma of the skin: Y axis collection method of the submission for Squamous cell carcinoma of the skin:
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 53 0 29 0 2 30 54

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
Squamous cell carcinoma of the skin pathogenic uncertain significance likely benign drug response
likely pathogenic 29 29 1 2

Condition to condition summary #

Total conditions: 38
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 7 0 0 21 27
Hereditary cancer-predisposing syndrome 0 14 0 11 0 0 11 22
not provided 0 5 0 16 0 0 3 19
Li-Fraumeni syndrome 1 0 3 0 5 0 0 1 6
Costello syndrome 0 1 0 4 0 0 0 4
Rasopathy 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
Neoplasm of the large intestine 0 63 0 3 0 0 0 3
Nevus sebaceous 0 0 0 3 0 0 0 3
Epidermal nevus 0 0 0 2 0 0 0 2
Hereditary cutaneous melanoma 0 0 0 0 0 0 2 2
Malignant tumor of prostate 0 0 0 0 0 0 2 2
Neoplasm of the thyroid gland 0 5 0 2 0 0 0 2
Non-Hodgkin lymphoma 0 9 0 2 0 0 0 2
Non-small cell lung cancer 0 0 0 2 0 0 0 2
PARP Inhibitor response 0 0 0 0 0 2 0 2
not specified 0 3 0 1 0 0 1 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 1 0 0 0 1
Astrocytoma, anaplastic; Pleomorphic xanthoastrocytoma 0 0 0 1 0 0 0 1
Cardio-facio-cutaneous syndrome 0 0 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 1 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
Hepatoblastoma 0 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 0 1 0 0 0 1
Li-Fraumeni-like syndrome 0 0 0 1 0 0 0 1
Lung cancer 0 0 0 1 0 0 0 1
Malignant Colorectal Neoplasm 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
Neoplasm of ovary 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
Osteosarcoma 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
SPITZ NEVUS, SOMATIC 0 0 0 1 0 0 0 1
Sarcoma 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NM_000077.4(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.4(CDKN2A):c.247C>T (p.His83Tyr) rs121913385
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.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.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_000546.5(TP53):c.706T>G (p.Tyr236Asp) rs587782289
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
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>G (p.Arg249Gly) rs587782082
NM_000546.5(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.5(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_000546.5(TP53):c.746G>T (p.Arg249Met) rs587782329
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.832C>A (p.Pro278Thr) rs17849781
NM_000546.5(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.5(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.5(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.5(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.5(TP53):c.833C>T (p.Pro278Leu) rs876659802
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_001126115.1(TP53):c.401G>A (p.Gly134Glu) rs193920774
NM_001126115.1(TP53):c.443G>T (p.Arg148Ile) rs121912660
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_004333.5(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
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_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229

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