ClinVar Miner

Variants in gene combination FANCI, POLG 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
22 14 0 10 8 0 0 15

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.

uncertain significance likely benign benign
uncertain significance 0 8 3
likely benign 8 0 10
benign 3 10 0

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=) rs1138465
NM_001113378.1(FANCI):c.3947G>A (p.Gly1316Glu) rs138461165
NM_002693.2(POLG):c.*49G>A rs758880377
NM_002693.2(POLG):c.*49dup rs3087377
NM_002693.2(POLG):c.2958C>T (p.Tyr986=) rs2307431
NM_002693.2(POLG):c.3105-11T>C rs2302084
NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002693.2(POLG):c.3643+258A>G rs1860021
NM_002693.2(POLG):c.3644-16T>C rs536522307
NM_002693.2(POLG):c.3644-99C>T rs3176241
NM_002693.2(POLG):c.3644-9A>G rs115048121
NM_002693.2(POLG):c.3652C>T (p.Leu1218=) rs146301349
NM_002693.2(POLG):c.3667A>G (p.Ile1223Val) rs148786642
NM_002693.2(POLG):c.3700C>A (p.Arg1234=) rs144346886
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) rs3087374

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