ClinVar Miner

Variants in gene combination AMACR, C1QTNF3-AMACR 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
88 8 0 6 7 0 0 13

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 7 0
likely benign 7 0 6
benign 0 6 0

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
NM_014324.6(AMACR):c.1083C>T (p.Arg361=) rs561675407
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr) rs199734111
NM_014324.6(AMACR):c.247+8C>G rs779779299
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676
NM_014324.6(AMACR):c.438G>A (p.Pro146=) rs140523570
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser) rs2287939
NM_014324.6(AMACR):c.714C>G (p.Pro238=) rs200824585
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677
NM_014324.6(AMACR):c.837G>A (p.Thr279=) rs35655488
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030
NM_014324.6(AMACR):c.90T>G (p.Arg30=) rs769780647

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