ClinVar Miner

Variants in gene RECQL4 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
2418 38 0 10 8 0 0 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 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 7 2
likely benign 0 0 7 0 9
benign 0 0 2 9 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_004260.3(RECQL4):c.1390+3G>A rs148912524
NM_004260.3(RECQL4):c.1395G>A (p.Thr465=) rs34948955
NM_004260.3(RECQL4):c.161A>G (p.Gln54Arg) rs35198096
NM_004260.3(RECQL4):c.1704+9C>T rs35876881
NM_004260.3(RECQL4):c.1879-15C>A rs35126141
NM_004260.3(RECQL4):c.1954G>A (p.Val652Met) rs61754061
NM_004260.3(RECQL4):c.275C>T (p.Pro92Leu) rs200516441
NM_004260.3(RECQL4):c.3056-2A>C rs786200889
NM_004260.3(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.3(RECQL4):c.308C>T (p.Pro103Leu) rs199543866
NM_004260.3(RECQL4):c.3143A>G (p.Lys1048Arg) rs202203322
NM_004260.3(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464
NM_004260.3(RECQL4):c.3435G>C (p.Gln1145His) rs61755066
NM_004260.3(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077
NM_004260.3(RECQL4):c.3609C>T (p.Leu1203=) rs201384843
NM_004260.3(RECQL4):c.543G>A (p.Gln181=) rs34159914
NM_004260.3(RECQL4):c.716C>T (p.Ala239Val) rs146709578

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