ClinVar Miner

Variants in gene SLC3A1 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
113 6 0 5 8 0 2 15

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 2 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 2 0 0 3 5
likely benign 0 0 3 0 3
benign 0 0 5 3 0

All variants with conflicting interpretations #

Total variants: 15
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NM_000341.4(SLC3A1):c.1035G>A (p.Glu345=) rs78795495
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His) rs121912697
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser) rs143068960
NM_000341.4(SLC3A1):c.1136+3del rs796262035
NM_000341.4(SLC3A1):c.1398C>T (p.Asn466=) rs140821819
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691
NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=) rs144065614
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=) rs146630359
NM_000341.4(SLC3A1):c.300C>T (p.Leu100=) rs115030299
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met) rs140317484
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met)
NM_000341.4(SLC3A1):c.66C>T (p.Asn22=) rs149507807
NM_000341.4(SLC3A1):c.797T>C (p.Phe266Ser) rs141587158
NM_000341.4(SLC3A1):c.892-6C>G rs114640930

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