ClinVar Miner

Variants in gene combination AOPEP, 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 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
230 67 0 25 15 0 0 36

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 0 0 0
likely pathogenic 8 0 0 0 0
uncertain significance 0 0 0 14 5
likely benign 0 0 14 0 17
benign 0 0 5 17 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NM_000136.2(FANCC):c.*42G>A rs7029888
NM_000136.2(FANCC):c.*7C>T rs372511678
NM_000136.2(FANCC):c.1073-4G>A rs147695697
NM_000136.2(FANCC):c.1073-5C>T rs375613884
NM_000136.2(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.2(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.2(FANCC):c.1242G>A (p.Ser414=) rs587780939
NM_000136.2(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.2(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.2(FANCC):c.1290C>T (p.Tyr430=) rs766105286
NM_000136.2(FANCC):c.1330-3C>T rs4647542
NM_000136.2(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.2(FANCC):c.1345G>A (p.Val449Met) rs1800367
NM_000136.2(FANCC):c.1387_1388delTC (p.Ala464Profs) rs730881710
NM_000136.2(FANCC):c.1394A>G (p.Gln465Arg) rs1800368
NM_000136.2(FANCC):c.1407G>A (p.Thr469=) rs79722116
NM_000136.2(FANCC):c.1414G>A (p.Gly472Arg) rs201063698
NM_000136.2(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.2(FANCC):c.1494T>C (p.Ala498=) rs76895298
NM_000136.2(FANCC):c.1509G>A (p.Thr503=) rs144278080
NM_000136.2(FANCC):c.1560C>T (p.His520=) rs150020474
NM_000136.2(FANCC):c.1604G>A (p.Arg535His) rs587779902
NM_000136.2(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.2(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.2(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.2(FANCC):c.816C>T (p.Ile272=) rs55719336
NM_000136.2(FANCC):c.817G>A (p.Glu273Lys) rs143181565
NM_000136.2(FANCC):c.840G>A (p.Ser280=) rs34671520
NM_000136.2(FANCC):c.843+4C>T rs4647506
NM_000136.2(FANCC):c.844-10_844-8delCCT rs758617953
NM_000136.2(FANCC):c.844-1G>C rs774209201
NM_000136.2(FANCC):c.896+2T>G rs863224441
NM_000136.2(FANCC):c.896+6C>T rs199525333
NM_000136.2(FANCC):c.897-8T>C rs878853673
NM_000136.2(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_000136.2(FANCC):c.973G>A (p.Ala325Thr) rs201407189

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