ClinVar Miner

Variants in gene combination ELP4, PAX6 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
54 44 0 18 6 0 1 24

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 0 1 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 6 0
likely benign 0 0 6 0 17
benign 0 0 0 17 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_019040.5(ELP4):c.*1302T>C rs146579778
NM_019040.5(ELP4):c.*1714C>G rs180780893
NM_019040.5(ELP4):c.*1783T>G rs140971065
NM_019040.5(ELP4):c.*1811A>C rs185968715
NM_019040.5(ELP4):c.*2040G>C rs183115097
NM_019040.5(ELP4):c.*2525C>A rs183433948
NM_019040.5(ELP4):c.*2664G>A rs567720234
NM_019040.5(ELP4):c.*3092T>C rs371438311
NM_019040.5(ELP4):c.*3383C>T rs541022955
NM_019040.5(ELP4):c.*3425C>T rs3026399
NM_019040.5(ELP4):c.*3509A>G rs542906080
NM_019040.5(ELP4):c.*3528A>G rs143185259
NM_019040.5(ELP4):c.*3713A>T rs138881442
NM_019040.5(ELP4):c.*3904G>A rs3026397
NM_019040.5(ELP4):c.*3994C>A rs79739975
NM_019040.5(ELP4):c.*4172A>C rs73477658
NM_019040.5(ELP4):c.*4251G>A rs3026396
NM_019040.5(ELP4):c.*4806T>A rs189545730
NM_019040.5(ELP4):c.*4932G>A rs181818313
NM_019040.5(ELP4):c.*5123T>A rs576321279
NM_019040.5(ELP4):c.*5519C>T rs530259403
NM_019040.5(ELP4):c.*5569G>A rs530931929
NM_019040.5(ELP4):c.*5993G>A rs55756603
NM_019040.5(ELP4):c.*6411T>A rs121907922

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