ClinVar Miner

Variants in gene ESCO2 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
167 11 7 7 3 0 0 16

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 7 2 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 0 0 2 1
likely benign 0 0 2 0 5
benign 0 0 1 5 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
NM_001017420.3(ESCO2):c.1013+7A>G rs149494070
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs) rs80359859
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862
NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter) rs80359864
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp) rs201989984
NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly) rs80359868
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=) rs73568217
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs) rs80359845
NM_001017420.3(ESCO2):c.506G>A (p.Arg169Gln) rs1052492
NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter) rs80359850
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala) rs750159862
NM_001017420.3(ESCO2):c.760del (p.Thr254fs) rs80359852
NM_001017420.3(ESCO2):c.760dup (p.Thr254fs) rs80359852
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser) rs141631911
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=) rs535236969

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