ClinVar Miner

Variants in gene EFEMP2 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
141 21 0 3 8 0 1 11

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 1 0 0
uncertain significance 1 0 6 3
likely benign 0 6 0 3
benign 0 3 3 0

All variants with conflicting interpretations #

Total variants: 11
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NM_016938.5(EFEMP2):c.-113C>T rs188624478
NM_016938.5(EFEMP2):c.138C>T (p.Asp46=) rs2234457
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) rs144320036
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462
NM_016938.5(EFEMP2):c.363T>C (p.Cys121=) rs746343857
NM_016938.5(EFEMP2):c.368-4G>A rs111550973
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His) rs141868759
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=) rs140946753

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