ClinVar Miner

Variants in gene PC 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 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
139 9 5 5 11 0 7 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 5 0 1 0 0
likely pathogenic 0 0 6 0 0
uncertain significance 1 6 0 5 7
likely benign 0 0 5 0 5
benign 0 0 7 5 0

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_001040716.2(PC):c.*15G>A rs45501894
NM_001040716.2(PC):c.1167G>A (p.Pro389=) rs556534486
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr) rs1057520687
NM_001040716.2(PC):c.1185+5_1185+8del rs748620956
NM_001040716.2(PC):c.1344G>A (p.Ala448=) rs148281644
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys) rs113994143
NM_001040716.2(PC):c.1513+13del rs755170894
NM_001040716.2(PC):c.1513+9C>A rs45580638
NM_001040716.2(PC):c.1608G>A (p.Pro536=) rs139074169
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr) rs28940589
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892
NM_001040716.2(PC):c.2224-9T>G rs45560936
NM_001040716.2(PC):c.2229G>T (p.Met743Ile) rs28940590
NM_001040716.2(PC):c.2550C>T (p.Cys850=) rs61749179
NM_001040716.2(PC):c.2580C>T (p.Asp860=) rs45584036
NM_001040716.2(PC):c.2619C>T (p.Asn873=) rs2229745
NM_001040716.2(PC):c.2723C>T (p.Thr908Met) rs796052032
NM_001040716.2(PC):c.3198C>T (p.Ser1066=) rs144087445
NM_001040716.2(PC):c.434T>C (p.Val145Ala) rs28940591
NM_001040716.2(PC):c.467G>A (p.Arg156Gln) rs119103241
NM_001040716.2(PC):c.52C>A (p.Arg18=) rs144583275
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506
NM_001040716.2(PC):c.786G>T (p.Glu262Asp) rs200030109
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001040716.2(PC):c.927C>T (p.Thr309=) rs373717650

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