ClinVar Miner

Variants in gene ECEL1 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
62 9 0 9 3 1 1 12

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 drug response protective other
pathogenic 0 2 0 0 0 0 0 0
likely pathogenic 3 0 1 1 1 1 1 1
uncertain significance 0 0 0 3 0 0 0 0
likely benign 0 0 3 0 6 0 0 0
benign 0 0 0 6 0 0 0 0

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890
NM_004826.4(ECEL1):c.1267G>C (p.Glu423Gln) rs41265123
NM_004826.4(ECEL1):c.155T>C (p.Leu52Pro) rs564717204
NM_004826.4(ECEL1):c.1656G>A (p.Lys552=) rs1190429
NM_004826.4(ECEL1):c.1797-10G>A rs76290356
NM_004826.4(ECEL1):c.1995C>T (p.Asn665=) rs61731716
NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr) rs606231471
NM_004826.4(ECEL1):c.2105G>T (p.Arg702Leu) rs117012322
NM_004826.4(ECEL1):c.2229-7A>C rs368488157
NM_004826.4(ECEL1):c.426C>A (p.Asp142Glu) rs144928688
NM_004826.4(ECEL1):c.967-7C>G rs76735188
Single allele rs1553567402

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