ClinVar Miner

Variants in gene EFEMP2 with conflicting interpretations

See also:
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
70 13 8 5 7 0 0 18

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 uncertain significance likely benign benign
pathogenic 8 0 0 0
uncertain significance 0 0 7 2
likely benign 0 7 0 5
benign 0 2 5 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs) rs193302865
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.161-10C>T rs2234461
NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys) rs119489101
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462
NM_016938.5(EFEMP2):c.368-11G>A rs181514768
NM_016938.5(EFEMP2):c.368-4G>A rs111550973
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867
NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val) rs193302869
NM_016938.5(EFEMP2):c.577del (p.Gln193fs) rs193302870
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) rs193302864
NM_016938.5(EFEMP2):c.728-3C>T rs377139656
NM_016938.5(EFEMP2):c.738G>A (p.Glu246=) rs144780990
NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr) rs193302866
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) rs119489102
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.