ClinVar Miner

Variants in gene KDM5C 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
177 16 0 13 5 0 1 17

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 0 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 0 1 0 4 3
likely benign 0 0 4 0 10
benign 0 0 3 10 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
NM_004187.4(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004187.4(KDM5C):c.4338C>T (p.His1446=) rs797044695
NM_004187.4(KDM5C):c.4637G>A (p.Arg1546Gln) rs139569882
NM_004187.5(KDM5C):c.108C>T (p.Pro36=) rs139309563
NM_004187.5(KDM5C):c.1236C>T (p.Pro412=) rs147546892
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter)
NM_004187.5(KDM5C):c.2138C>T (p.Thr713Met) rs1064794733
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=) rs370000816
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs) rs1602163752
NM_004187.5(KDM5C):c.3441C>T (p.Ile1147=) rs45442400
NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=) rs143291826
NM_004187.5(KDM5C):c.465C>T (p.Ser155=) rs138520224
NM_004187.5(KDM5C):c.536G>A (p.Arg179His) rs201805773
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_004187.5(KDM5C):c.896G>A (p.Ser299Asn) rs782163332

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