ClinVar Miner

Variants in gene FANCE 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
196 24 0 4 16 0 1 20

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 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 7 10
likely benign 0 0 7 0 3
benign 0 0 10 3 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_021922.2(FANCE):c.1071C>T (p.Leu357=) rs3823434
NM_021922.2(FANCE):c.1111C>T (p.Arg371Trp) rs775076977
NM_021922.2(FANCE):c.1114-8G>A rs878854342
NM_021922.2(FANCE):c.1116C>T (p.Ile372=) rs143234424
NM_021922.2(FANCE):c.1310T>C (p.Met437Thr) rs142903218
NM_021922.2(FANCE):c.1316+19G>A rs6457823
NM_021922.2(FANCE):c.1504G>A (p.Ala502Thr) rs9462088
NM_021922.2(FANCE):c.1509C>T (p.Asn503=) rs147166240
NM_021922.2(FANCE):c.1572G>A (p.Arg524=) rs115195341
NM_021922.2(FANCE):c.216G>T (p.Pro72=) rs886061328
NM_021922.2(FANCE):c.253C>T (p.Pro85Ser) rs145068586
NM_021922.2(FANCE):c.274C>T (p.Arg92Trp) rs375195621
NM_021922.2(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_021922.2(FANCE):c.52C>T (p.Pro18Ser) rs552241929
NM_021922.2(FANCE):c.552A>C (p.Pro184=) rs138182352
NM_021922.2(FANCE):c.611C>T (p.Ser204Leu) rs7761870
NM_021922.2(FANCE):c.696G>A (p.Glu232=) rs147356927
NM_021922.2(FANCE):c.900+39A>G rs13214239
NM_021922.3(FANCE):c.1333C>T rs141551053
NM_021922.3(FANCE):c.937C>T (p.Leu313=)

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