ClinVar Miner

Variants in gene SLC25A13 with conflicting interpretations

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 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
86 45 9 4 2 0 3 17

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 9 1 2 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 2 1 0 2 0
likely benign 0 0 2 0 3
benign 0 0 0 3 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter) rs758827458
NM_014251.3(SLC25A13):c.1177+1G>A rs80338722
NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=) rs747257110
NM_014251.3(SLC25A13):c.1311+1G>A rs80338723
NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu) rs139149160
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs) rs80338725
NM_014251.3(SLC25A13):c.1671C>T (p.Thr557=) rs79886797
NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln) rs121908532
NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter) rs80338726
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter) rs80338729
NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=) rs35539807
NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter) rs80338716
NM_014251.3(SLC25A13):c.615+5G>A rs80338717
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) rs80338719
NM_014251.3(SLC25A13):c.675G>A (p.Ser225=) rs78247004
NM_014251.3(SLC25A13):c.848+9G>T rs201395793
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720

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