ClinVar Miner

Variants in gene B3GLCT 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
126 10 2 4 7 0 0 13

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 2 0 0 0
uncertain significance 0 0 4 3
likely benign 0 4 0 4
benign 0 3 4 0

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_194318.4(B3GLCT):c.1010G>A (p.Arg337His) rs199794968
NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=) rs114425388
NM_194318.4(B3GLCT):c.1185-6C>G rs202096313
NM_194318.4(B3GLCT):c.1207G>A (p.Val403Ile) rs147485868
NM_194318.4(B3GLCT):c.1329+6G>T rs200460848
NM_194318.4(B3GLCT):c.1371A>G (p.Gln457=) rs114941150
NM_194318.4(B3GLCT):c.271-8T>C rs183322816
NM_194318.4(B3GLCT):c.288C>T (p.Leu96=) rs9542305
NM_194318.4(B3GLCT):c.347+5G>A rs80338850
NM_194318.4(B3GLCT):c.39G>C (p.Pro13=) rs753313963
NM_194318.4(B3GLCT):c.450C>A (p.Asp150Glu) rs141743580
NM_194318.4(B3GLCT):c.660+1G>A rs80338851
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) rs34830061

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