ClinVar Miner

Variants in gene MLC1 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
122 7 3 15 1 0 2 18

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 3 4 1 0 0
likely pathogenic 4 0 1 0 0
uncertain significance 1 1 0 1 1
likely benign 0 0 1 0 11
benign 0 0 1 11 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_015166.3(MLC1):c.*45A>G rs2072873
NM_015166.3(MLC1):c.1031A>G (p.Asn344Ser) rs11568188
NM_015166.3(MLC1):c.1053T>C (p.Ala351=) rs11568190
NM_015166.3(MLC1):c.135dupC (p.Cys46Leufs) rs80358241
NM_015166.3(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.3(MLC1):c.178-10T>A rs80358243
NM_015166.3(MLC1):c.274C>T (p.Pro92Ser) rs121908345
NM_015166.3(MLC1):c.278C>T (p.Ser93Leu) rs80358245
NM_015166.3(MLC1):c.512G>T (p.Cys171Phe) rs6010260
NM_015166.3(MLC1):c.594C>T (p.Tyr198=) rs6010165
NM_015166.3(MLC1):c.597A>G (p.Ser199=) rs6010164
NM_015166.3(MLC1):c.628G>A (p.Val210Ile) rs11568178
NM_015166.3(MLC1):c.654C>A (p.Asn218Lys) rs41302601
NM_015166.3(MLC1):c.65G>A (p.Arg22Gln) rs184241759
NM_015166.3(MLC1):c.839C>T (p.Ser280Leu) rs121908341
NM_015166.3(MLC1):c.895-9C>T rs11568185
NM_015166.3(MLC1):c.978C>T (p.Cys326=) rs11568186
NM_015166.3(MLC1):c.996T>C (p.Ser332=) rs11568187

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