ClinVar Miner

Variants in gene FANCC 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
515 67 0 19 11 0 1 27

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 11 1 0 0
likely pathogenic 11 0 0 0 0
uncertain significance 1 0 0 10 6
likely benign 0 0 10 0 8
benign 0 0 6 8 0

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.250+220G>A rs356667 0.18637
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360 0.02397
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_000136.3(FANCC):c.-155A>C rs549658720 0.00998
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000136.3(FANCC):c.457-18A>G rs377206543 0.00036
NM_000136.3(FANCC):c.166-7T>C rs369052148 0.00027
NM_000136.3(FANCC):c.-79+7G>T rs551170090 0.00019
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201 0.00019
NM_000136.3(FANCC):c.251-20T>C rs370867462 0.00009
NM_000136.3(FANCC):c.345+6A>T rs368595927 0.00007
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905 0.00005
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) rs765990832 0.00003
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.8_9del (p.Gln3fs) rs1831183107

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