ClinVar Miner

Variants in gene combination DNAAF3, TNNI3 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
2 3 0 15 1 0 0 16

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.

uncertain significance likely benign benign
uncertain significance 0 0 1
likely benign 0 0 15
benign 1 15 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000363.5(TNNI3):c.-35C>A rs3729707
NM_000363.5(TNNI3):c.150+13G>A rs73617692
NM_000363.5(TNNI3):c.204G>T (p.Arg68=) rs3729711
NM_000363.5(TNNI3):c.25-8T>A rs3729836
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) rs890871
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) rs891187
NM_001256715.2(DNAAF3):c.1164-14C>T rs60176657
NM_001256715.2(DNAAF3):c.1239-8A>G rs28377509
NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=) rs111250144
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375
NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=) rs559008223
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) rs7260320
NM_001256715.2(DNAAF3):c.790-14C>T rs7260371
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) rs2365725

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