ClinVar Miner

Variants in gene ERCC6 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 Variants with at least 2 submissions 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 kind of conflict
80 95 0 15 13 0 2 29

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 8 2 0 0
likely pathogenic 8 0 0 0 0
uncertain significance 2 0 0 13 1
likely benign 0 0 13 0 7
benign 0 0 1 7 0

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000124.2(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037
NM_000124.3(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.3(ERCC6):c.1518delG (p.Lys506Asnfs) rs786205168
NM_000124.3(ERCC6):c.1526+1G>T rs371739894
NM_000124.3(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975
NM_000124.3(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163
NM_000124.3(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904
NM_000124.3(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653
NM_000124.3(ERCC6):c.2096C>T (p.Thr699Met) rs55698015
NM_000124.3(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354
NM_000124.3(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.3(ERCC6):c.2599-26A>G rs4253196
NM_000124.3(ERCC6):c.2751C>T (p.Gly917=) rs2229760
NM_000124.3(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254
NM_000124.3(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191
NM_000124.3(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713
NM_000124.3(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000124.3(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.3(ERCC6):c.3289A>G (p.Met1097Val) rs2228526
NM_000124.3(ERCC6):c.3412dupA (p.Thr1138Asnfs) rs786205170
NM_000124.3(ERCC6):c.3453A>G (p.Leu1151=) rs771604820
NM_000124.3(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.3(ERCC6):c.3536delA (p.Tyr1179Leufs) rs786205171
NM_000124.3(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527
NM_000124.3(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166
NM_000124.3(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.3(ERCC6):c.4065T>G (p.Asp1355Glu) rs34917815
NM_000124.3(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529
NM_000124.3(ERCC6):c.4393G>A (p.Val1465Ile) rs201813523

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