ClinVar Miner

Variants in gene MCCC1 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
274 28 0 5 10 0 1 16

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 10 0
likely benign 0 0 10 0 4
benign 0 0 0 4 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_020166.5(MCCC1):c.-24A>G rs11540930
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268
NM_020166.5(MCCC1):c.156C>A (p.Val52=) rs398124353
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) rs377320336
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) rs142629318
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212

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