ClinVar Miner

Variants in gene combination CDKL5, RS1 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
225 45 0 9 5 0 1 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 3 1 0 0
likely pathogenic 3 0 0 0 0
uncertain significance 1 0 0 3 4
likely benign 0 0 3 0 6
benign 0 0 4 6 0

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
NM_000330.3(RS1):c.214G>A (p.Glu72Lys) rs104894928
NM_000330.3(RS1):c.304C>T (p.Arg102Trp) rs61752067
NM_000330.3(RS1):c.576C>T (p.Pro192=) rs186334493
NM_000330.3(RS1):c.579del (p.Ile194fs) rs199469697
NM_000330.3(RS1):c.625C>T (p.Arg209Cys) rs281865361
NM_000330.4(RS1):c.264G>C (p.Gln88His) rs201680258
NM_003159.2(CDKL5):c.2854C>T (p.Arg952Ter) rs202153551
NM_003159.2(CDKL5):c.2857G>T (p.Ala953Ser) rs767312604
NM_003159.2(CDKL5):c.2867G>A (p.Arg956His) rs376557374
NM_003159.2(CDKL5):c.2928G>A (p.Pro976=) rs140944590
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110

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