ClinVar Miner

Variants in gene MMAB with conflicting interpretations

See also:
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
216 18 0 10 11 0 5 24

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 8 3 0 1
likely pathogenic 8 0 3 0 0
uncertain significance 3 3 0 11 1
likely benign 0 0 11 0 2
benign 1 0 1 2 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
NM_052845.4(MMAB):c.135-23T>C rs66580225
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121
NM_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276
NM_052845.4(MMAB):c.349-1G>C rs864309510
NM_052845.4(MMAB):c.387G>A (p.Ala129=) rs549807022
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter) rs557884699
NM_052845.4(MMAB):c.516G>T (p.Leu172=) rs914000089
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) rs398124434
NM_052845.4(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) rs36013132
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388
NM_052845.4(MMAB):c.644+7G>A rs147637814
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005
NM_052845.4(MMAB):c.660_661del (p.Phe221fs) rs1383825118
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802
NM_052845.4(MMAB):c.99G>A (p.Gln33=) rs749127574

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