ClinVar Miner

Variants with conflicting interpretations studied for Familial aortopathy

Coded as:
Minimum review status of the submission for Familial aortopathy: Collection method of the submission for Familial aortopathy:
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
13 12 0 8 0 0 0 8

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
Familial aortopathy pathogenic likely pathogenic likely benign benign
pathogenic 0 2 0 0
likely pathogenic 2 0 0 0
likely benign 0 0 0 1
benign 0 0 3 0

Condition to condition summary #

Total conditions: 3
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
not provided 0 11 0 7 0 0 0 7
not specified 0 8 0 2 0 0 0 2
Lissencephaly, Recessive 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017668.3(NDE1):c.948-5739G>A rs34839877 0.03595
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=) rs112990531 0.00046
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636 0.00001
NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter) rs794728176
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792

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