ClinVar Miner

Variants in gene EGR2 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
174 18 4 6 10 0 2 20

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 4 1 1 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 1 1 0 7 3
likely benign 0 0 7 0 5
benign 0 0 3 5 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000399.5(EGR2):c.1066G>C (p.Glu356Gln) rs751448371
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133
NM_000399.5(EGR2):c.108G>A (p.Val36=) rs746579337
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln) rs864622273
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000399.5(EGR2):c.1399G>C (p.Ala467Pro) rs146116229
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) rs202183386
NM_000399.5(EGR2):c.534A>G (p.Ala178=) rs370084216
NM_000399.5(EGR2):c.644C>T (p.Thr215Met) rs139147487
NM_000399.5(EGR2):c.665T>C (p.Met222Thr) rs530614586
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) rs104894158
NM_000399.5(EGR2):c.832G>A (p.Ala278Thr) rs565355765
NM_000399.5(EGR2):c.897AGC[6] (p.Ala309dup) rs746688326
NM_000399.5(EGR2):c.909A>C (p.Ala303=) rs112474655

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