ClinVar Miner

Variants in gene SLC19A3 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 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
299 20 0 13 11 0 0 22

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 0 2 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 0 0 10 3
likely benign 0 0 10 0 11
benign 0 0 3 11 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
NM_025243.4(SLC19A3):c.*8G>A rs188532608
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala) rs34507036
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu) rs149806390
NM_025243.4(SLC19A3):c.111del (p.Tyr38fs) rs1559252723
NM_025243.4(SLC19A3):c.1132A>G (p.Ile378Val) rs117864472
NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn) rs145288025
NM_025243.4(SLC19A3):c.1204C>T (p.Arg402Cys) rs150523975
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) rs145999922
NM_025243.4(SLC19A3):c.390G>T (p.Val130=) rs376187918
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=) rs34080459
NM_025243.4(SLC19A3):c.435C>T (p.Ser145=) rs76517176
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile) rs59736804
NM_025243.4(SLC19A3):c.546G>A (p.Val182=) rs143188189
NM_025243.4(SLC19A3):c.549T>C (p.Ala183=) rs74693100
NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly) rs199558186
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=) rs147205930
NM_025243.4(SLC19A3):c.861C>T (p.Phe287=) rs764867524
NM_025243.4(SLC19A3):c.99A>G (p.Pro33=) rs17853011

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