ClinVar Miner

Variants with conflicting interpretations studied for Neoplasm of the thyroid gland

Coded as:
Minimum review status of the submission for Neoplasm of the thyroid gland: Y axis collection method of the submission for Neoplasm of the thyroid gland:
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 14 0 26 0 1 2 27

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
Neoplasm of the thyroid gland pathogenic likely pathogenic uncertain significance drug response
pathogenic 0 12 1 0
likely pathogenic 14 0 1 1

Condition to condition summary #

Total conditions: 50
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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
not provided 0 5 0 7 0 0 1 8
Neoplasm of the large intestine 0 25 0 7 0 0 0 7
Non-small cell lung cancer 0 13 0 6 0 0 0 6
Acute myeloid leukemia 0 10 0 5 0 0 0 5
Cutaneous melanoma 0 2 0 4 0 0 0 4
Costello syndrome 0 2 0 3 0 0 0 3
Lung adenocarcinoma 0 15 0 3 0 0 0 3
Neoplasm of the breast 0 10 0 3 0 0 0 3
Adenocarcinoma of stomach 0 19 0 2 0 0 0 2
Carcinoma of colon 0 0 0 2 0 0 0 2
Chronic lymphocytic leukemia 0 10 0 2 0 0 0 2
Congenital giant melanocytic nevus; Epidermal nevus syndrome; Bladder cancer, somatic; Costello syndrome; Epidermal nevus; Follicular thyroid carcinoma 0 1 0 2 0 0 0 2
Hepatocellular carcinoma 0 11 0 2 0 0 0 2
Malignant melanoma of skin 0 15 0 2 0 0 0 2
Malignant neoplasm of body of uterus 0 18 0 2 0 0 0 2
Medullary thyroid carcinoma 0 1 0 2 0 0 0 2
Multiple endocrine neoplasia, type 2a 0 0 0 2 0 0 0 2
Multiple myeloma 0 10 0 2 0 0 0 2
Neoplasm 0 3 0 2 0 0 0 2
Nevus sebaceous 0 3 0 2 0 0 0 2
Pancreatic adenocarcinoma 0 12 0 2 0 0 0 2
Rasopathy 0 2 0 2 0 0 0 2
Squamous cell carcinoma of the head and neck 0 11 0 2 0 0 0 2
Squamous cell carcinoma of the skin 0 5 0 2 0 0 0 2
Squamous cell lung carcinoma 0 8 0 2 0 0 0 2
Transitional cell carcinoma of the bladder 0 16 0 2 0 0 0 2
Uterine cervical neoplasms 0 5 0 2 0 0 0 2
Vascular Tumors Including Pyogenic Granuloma 0 0 0 2 0 0 0 2
Breast adenocarcinoma 0 1 0 1 0 0 0 1
Cowden syndrome 0 0 0 1 0 0 0 1
Cowden syndrome 5 0 0 0 1 0 0 0 1
Cowden syndrome 6 0 0 0 0 0 0 1 1
Epidermal nevus 0 3 0 1 0 0 0 1
Epidermal nevus with urothelial cancer, somatic 0 0 0 1 0 0 0 1
Follicular thyroid carcinoma 0 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 0 1 0 0 0 1
Lung cancer 0 1 0 1 0 0 0 1
Multiple endocrine neoplasia, type 1 0 1 0 1 0 0 0 1
Multiple endocrine neoplasia, type 2 0 1 0 1 0 0 0 1
Multiple endocrine neoplasia, type 2b 0 1 0 1 0 0 0 1
Multiple endocrine neoplasia, type 4 0 1 0 1 0 0 0 1
Myopathy, congenital, with excess of muscle spindles 0 1 0 1 0 0 0 1
Neoplasm of ovary 0 2 0 1 0 0 0 1
Nevus, woolly hair 0 0 0 1 0 0 0 1
Noonan syndrome; Cardio-facio-cutaneous syndrome 0 0 0 1 0 0 0 1
PIK3CA related overgrowth spectrum 0 0 0 1 0 0 0 1
Pheochromocytoma 0 1 0 1 0 0 0 1
Proteus syndrome 0 0 0 1 0 0 0 1
cetuximab response - Dosage 0 0 0 0 0 1 0 1
panitumumab response - Dosage 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 27
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HGVS dbSNP
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004985.5(KRAS):c.182A>C (p.Gln61Pro) rs121913240
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) rs121913240
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys) rs121913530
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441
NM_004985.5(KRAS):c.38G>T (p.Gly13Val) rs112445441
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832

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