ClinVar Miner

Variants in gene MLYCD 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
91 7 0 10 3 0 1 14

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

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_012213.3(MLYCD):c.1044G>T (p.Glu348Asp) rs138675420
NM_012213.3(MLYCD):c.1098C>T (p.Ile366=) rs199549095
NM_012213.3(MLYCD):c.135C>T (p.Arg45=) rs767969074
NM_012213.3(MLYCD):c.1464A>G (p.Gln488=) rs1127368
NM_012213.3(MLYCD):c.206C>T (p.Ala69Val) rs200579941
NM_012213.3(MLYCD):c.31A>G (p.Arg11Gly) rs138107830
NM_012213.3(MLYCD):c.444C>T (p.Asp148=) rs62640904
NM_012213.3(MLYCD):c.475del (p.Ala159fs) rs796051991
NM_012213.3(MLYCD):c.529-8C>T rs3815806
NM_012213.3(MLYCD):c.642-12A>T rs2278036
NM_012213.3(MLYCD):c.642-5C>T rs2278037
NM_012213.3(MLYCD):c.732G>A (p.Ser244=) rs2278038
NM_012213.3(MLYCD):c.776G>C (p.Gly259Ala) rs77493891
NM_012213.3(MLYCD):c.850A>G (p.Thr284Ala) rs62640903

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