ClinVar Miner

Variants in gene MMAB 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
126 10 0 9 4 0 4 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 6 3 0 1
likely pathogenic 6 0 1 0 0
uncertain significance 3 1 0 3 1
likely benign 0 0 3 0 3
benign 1 0 1 3 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
NM_052845.3(MMAB):c.135-23T>C rs66580225
NM_052845.3(MMAB):c.185C>T (p.Thr62Met) rs115802744
NM_052845.3(MMAB):c.291-1G>A rs199971687
NM_052845.3(MMAB):c.349_354delATCCAG rs864309510
NM_052845.3(MMAB):c.377C>T (p.Ser126Leu) rs771053425
NM_052845.3(MMAB):c.394T>C (p.Cys132Arg) rs147457956
NM_052845.3(MMAB):c.403G>A (p.Ala135Thr) rs35648932
NM_052845.3(MMAB):c.444G>A (p.Gly148=) rs117269384
NM_052845.3(MMAB):c.520_584del65 rs756195708
NM_052845.3(MMAB):c.548A>T (p.His183Leu) rs752866643
NM_052845.3(MMAB):c.563_577dupTGTGCCGCCGGGCCG (p.Ala192_Glu193insValCysArgArgAla) rs1555274496
NM_052845.3(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052845.3(MMAB):c.56_57delGCinsAA (p.Arg19Gln) rs36013132
NM_052845.3(MMAB):c.571C>T (p.Arg191Trp) rs376128990
NM_052845.3(MMAB):c.656A>G (p.Tyr219Cys) rs765547005
NM_052845.3(MMAB):c.732G>A (p.Ser244=) rs186864802

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