ClinVar Miner

Variants in gene SLC17A5 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
82 38 6 9 1 0 2 14

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 2 7 1 0 0
likely pathogenic 7 4 1 0 0
uncertain significance 1 1 0 0 1
likely benign 0 0 0 0 2
benign 0 0 1 2 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs) rs386833987
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) rs587779410
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
NM_012434.5(SLC17A5):c.819+1G>A rs1057517028
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile) rs16883930
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916

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