ClinVar Miner

Variants with conflicting interpretations studied for Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2

Coded as:
Minimum review status of the submission for Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2: Y axis collection method of the submission for Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
838 1 0 0 0 0 2 2

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
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 pathogenic likely pathogenic
uncertain significance 1 2

Condition to condition summary #

Total conditions: 6
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Charcot-Marie-Tooth disease, demyelinating, type 1b; Variegate porphyria; Familial hemiplegic migraine type 2; Paragangliomas 3 0 0 0 0 0 0 1 1
Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 0 1 0 0 0 0 1 1
Dystonia; Global developmental delay; Ichthyosis (disease) 0 0 0 0 0 0 1 1
Hereditary nonpolyposis colon cancer 0 0 0 0 0 0 1 1
Hiatal hernia; Expressive language delay; Microcephaly; Delayed gross motor development; Mild short stature; Delayed fine motor development 0 0 0 0 0 0 1 1
Short stature; Failure to thrive; Anemia; Strabismus; Splenomegaly; Sparse hair; Neurodevelopmental delay; Thrombocytopenia 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 2
Download table as spreadsheet
HGVS dbSNP
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly) rs776981958
Single allele

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