ClinVar Miner

Variants with conflicting interpretations studied for Thanatophoric dysplasia type 1

Coded as:
Minimum review status of the submission for Thanatophoric dysplasia type 1: Y axis collection method of the submission for Thanatophoric dysplasia type 1:
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
4 0 11 5 0 0 1 11

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
Thanatophoric dysplasia type 1 pathogenic likely pathogenic uncertain significance
pathogenic 11 5 1
uncertain significance 1 1 0

Condition to condition summary #

Total conditions: 20
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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
Thanatophoric dysplasia type 1 5 0 10 0 0 0 1 10
not provided 0 0 8 0 0 0 1 8
Bladder carcinoma 0 0 0 4 0 0 1 4
Carcinoma 0 0 0 4 0 0 1 4
Craniosynostosis 0 0 3 0 0 0 1 3
Transitional cell carcinoma of the bladder 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 2 0 0 0 0 2
Epidermal nevus 0 0 2 0 0 0 0 2
Keratosis, seborrheic 0 0 2 0 0 0 0 2
Papillary renal cell carcinoma, sporadic 0 0 0 2 0 0 1 2
Squamous cell carcinoma of the head and neck 0 0 0 2 0 0 0 2
Squamous cell lung carcinoma 0 0 0 2 0 0 0 2
Bladder cancer, somatic 0 0 1 0 0 0 0 1
Carcinoma of cervix 0 0 1 0 0 0 0 1
Lung adenocarcinoma 0 0 0 1 0 0 0 1
Multiple myeloma 0 0 1 1 0 0 0 1
Myeloproliferative disorder 0 0 0 1 0 0 1 1
SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS 0 0 1 0 0 0 0 1
Skeletal dysplasia with acanthosis nigricans 0 0 1 0 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 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 11
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HGVS dbSNP
NM_000142.4(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.4(FGFR3):c.1111A>T (p.Ser371Cys) rs121913484
NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.4(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000142.4(FGFR3):c.2419T>A (p.Ter807Arg) rs121913101
NM_000142.4(FGFR3):c.2419T>G (p.Ter807Gly) rs121913101
NM_000142.4(FGFR3):c.2420G>T (p.Ter807Leu) rs397515514
NM_000142.4(FGFR3):c.2421A>G (p.Ter807Trp) rs121913103
NM_000142.4(FGFR3):c.2421A>T (p.Ter807Cys) rs121913103
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys) rs121913483

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