ClinVar Miner

Variants in gene ROGDI 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
253 12 0 8 6 0 0 13

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

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
NM_024589.2(ROGDI):c.117+10C>G rs113858060
NM_024589.2(ROGDI):c.243C>T (p.Ala81=) rs148051351
NM_024589.2(ROGDI):c.378G>C (p.Leu126=) rs145588848
NM_024589.2(ROGDI):c.414G>A (p.Thr138=) rs11553876
NM_024589.2(ROGDI):c.45+9_45+20del rs772340154
NM_024589.2(ROGDI):c.522C>T (p.Ser174=) rs150687774
NM_024589.2(ROGDI):c.532-4G>A rs3747610
NM_024589.2(ROGDI):c.555G>C (p.Pro185=) rs771793763
NM_024589.2(ROGDI):c.567G>A (p.Leu189=) rs143000899
NM_024589.2(ROGDI):c.696-8G>T rs3747609
NM_024589.2(ROGDI):c.713G>A (p.Arg238His) rs138409264
NM_024589.2(ROGDI):c.783C>T (p.Phe261=) rs142481526
NM_024589.2(ROGDI):c.823-10C>T rs199642172

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