ClinVar Miner

Variants with conflicting interpretations studied for Costello syndrome

Coded as:
Minimum review status of the submission for Costello syndrome: Y axis collection method of the submission for Costello syndrome:
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
62 28 0 21 10 0 3 31

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
Costello syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 8 0 0 0
likely pathogenic 4 0 1 0 0
uncertain significance 1 3 0 5 2
likely benign 0 0 4 0 6
benign 0 0 1 4 0

Condition to condition summary #

Total conditions: 40
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
not specified 0 18 0 7 6 0 0 12
not provided 0 23 0 3 5 0 2 10
Acute myeloid leukemia 0 1 0 6 0 0 0 6
Adenocarcinoma of stomach 0 1 0 6 0 0 0 6
Lung adenocarcinoma 0 1 0 6 0 0 0 6
Multiple myeloma 0 1 0 6 0 0 0 6
Neoplasm of the large intestine 0 2 0 6 0 0 0 6
Uterine cervical neoplasms 0 1 0 6 0 0 0 6
Neoplasm of the breast 0 1 0 5 0 0 0 5
Rasopathy 0 10 0 4 2 0 0 5
Hepatocellular carcinoma 0 1 0 4 0 0 0 4
Malignant melanoma of skin 0 1 0 4 0 0 0 4
Malignant neoplasm of body of uterus 0 1 0 4 0 0 0 4
Pancreatic adenocarcinoma 0 1 0 4 0 0 0 4
Squamous cell carcinoma of the head and neck 0 1 0 4 0 0 0 4
Squamous cell carcinoma of the skin 0 1 0 4 0 0 0 4
Transitional cell carcinoma of the bladder 0 1 0 4 0 0 0 4
Adenocarcinoma of prostate 0 0 0 3 0 0 0 3
Adenoid cystic carcinoma 0 0 0 3 0 0 0 3
Carcinoma of esophagus 0 0 0 3 0 0 0 3
Costello syndrome 107 11 0 1 1 0 1 3
Glioblastoma 0 0 0 3 0 0 0 3
Myelodysplastic syndrome 0 0 0 3 0 0 0 3
Nasopharyngeal Neoplasms 0 0 0 3 0 0 0 3
Neoplasm of the thyroid gland 0 2 0 3 0 0 0 3
Ovarian Serous Cystadenocarcinoma 0 0 0 3 0 0 0 3
Papillary renal cell carcinoma, sporadic 0 0 0 3 0 0 0 3
Uterine Carcinosarcoma 0 0 0 3 0 0 0 3
Bladder carcinoma 0 0 0 1 0 0 0 1
Cardiovascular phenotype 0 0 0 0 0 0 1 1
Chronic lymphocytic leukemia 0 1 0 1 0 0 0 1
Cutaneous melanoma 0 0 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 2 0 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 0 0 0 0 0 0 1 1
Myopathy, congenital, with excess of muscle spindles 0 2 0 1 0 0 0 1
Neoplasm 0 0 0 1 0 0 0 1
Non-small cell lung cancer 0 0 0 0 0 0 1 1
Primary familial hypertrophic cardiomyopathy 0 0 0 0 0 0 1 1
Pulmonic stenosis; Supravalvar aortic stenosis 0 0 0 0 1 0 0 1
Squamous cell lung carcinoma 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_000364.4(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005343.4(HRAS):c.177C>T (p.Ala59=) rs730880456
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051
NM_005343.4(HRAS):c.277A>G (p.Ile93Val) rs587782949
NM_005343.4(HRAS):c.309G>A (p.Val103=) rs575789207
NM_005343.4(HRAS):c.330C>T (p.Pro110=) rs200747280
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
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.35_36delinsAA (p.Gly12Glu) rs727503094
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) rs369106578
NM_005343.4(HRAS):c.369C>T (p.Arg123=) rs200945755
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424
NM_005343.4(HRAS):c.378A>G (p.Glu126=) rs397517140
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) rs397517142
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.451-5C>G rs370181298
NM_005343.4(HRAS):c.45C>T (p.Gly15=) rs727504614
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) rs372936166
NM_005343.4(HRAS):c.510G>A (p.Lys170=) rs397517143
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) rs121917757
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628
NM_005343.4(HRAS):c.96C>T (p.Tyr32=) rs369039481

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