ClinVar Miner

Variants in gene combination BSCL2, HNRNPUL2-BSCL2 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 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
220 39 0 7 10 0 0 17

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 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 9 1
likely benign 0 0 9 0 6
benign 0 0 1 6 0

All variants with conflicting interpretations #

Total variants: 17
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NM_032667.6(BSCL2):c.-69C>T rs201493373
NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro) rs145649423
NM_032667.6(BSCL2):c.1175G>A (p.Arg392His) rs149466797
NM_032667.6(BSCL2):c.228C>T (p.Ser76=) rs780093151
NM_032667.6(BSCL2):c.256G>A (p.Val86Ile) rs149412531
NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) rs137852973
NM_032667.6(BSCL2):c.396C>T (p.Cys132=) rs369806785
NM_032667.6(BSCL2):c.553G>A (p.Ala185Thr) rs10776
NM_032667.6(BSCL2):c.631G>A (p.Gly211Arg) rs151018278
NM_032667.6(BSCL2):c.653C>T (p.Ala218Val) rs185341934
NM_032667.6(BSCL2):c.669C>T (p.Leu223=) rs370926100
NM_032667.6(BSCL2):c.747C>T (p.Ile249=) rs200300686
NM_032667.6(BSCL2):c.813+4G>T rs367731146
NM_032667.6(BSCL2):c.839C>T (p.Ser280Phe) rs140676897
NM_032667.6(BSCL2):c.908C>T (p.Pro303Leu) rs144245125
NM_032667.6(BSCL2):c.945A>G (p.Glu315=) rs6856
NM_032667.6(BSCL2):c.975C>T (p.Ser325=) rs17850877

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