ClinVar Miner

Variants in gene combination BIVM-ERCC5, ERCC5 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
160 18 0 14 7 0 2 22

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 2 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 2 0 0 5 3
likely benign 0 0 5 0 13
benign 0 0 3 13 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_000123.3(ERCC5):c.1110T>A (p.Arg370=) rs150791877
NM_000123.3(ERCC5):c.138T>C (p.His46=) rs1047768
NM_000123.3(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869
NM_000123.3(ERCC5):c.1789G>C (p.Val597Leu) rs4150319
NM_000123.3(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570
NM_000123.3(ERCC5):c.2375C>T (p.Ala792Val) rs121434571
NM_000123.3(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576
NM_000123.3(ERCC5):c.2636A>G (p.Asn879Ser) rs4150342
NM_000123.3(ERCC5):c.2778C>G (p.Gly926=) rs9518857
NM_000123.3(ERCC5):c.2818G>A (p.Val940Met) rs146344855
NM_000123.3(ERCC5):c.2877A>C (p.Arg959Ser) rs41281674
NM_000123.3(ERCC5):c.3177C>T (p.Gly1059=) rs148856875
NM_000123.3(ERCC5):c.3310G>C (p.Asp1104His) rs17655
NM_000123.3(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022
NM_000123.3(ERCC5):c.640C>T (p.Arg214Cys) rs56255799
NM_000123.3(ERCC5):c.760A>G (p.Met254Val) rs1047769
NM_000123.3(ERCC5):c.767A>G (p.Gln256Arg) rs4150313
NM_000123.3(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000123.3(ERCC5):c.945C>T (p.His315=) rs34061299
NM_000123.3(ERCC5):c.960C>T (p.Asp320=) rs4150314
NM_000123.4(ERCC5):c.3157= (p.Gly1053=)
NM_000123.4(ERCC5):c.3238= (p.Gly1080=)

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