ClinVar Miner

Variants in gene BCS1L 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
78 11 1 11 3 0 8 19

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 7 3 0 0
likely pathogenic 7 1 8 0 0
uncertain significance 3 8 0 2 1
likely benign 0 0 2 0 4
benign 0 0 1 4 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
NM_004328.4(BCS1L):c.-14G>A rs367721351
NM_004328.4(BCS1L):c.-43G>A rs145989550
NM_004328.4(BCS1L):c.-50+155T>A rs386833855
NM_004328.4(BCS1L):c.1017T>C (p.Pro339=) rs35843327
NM_004328.4(BCS1L):c.166C>T (p.Arg56Ter) rs121908576
NM_004328.4(BCS1L):c.205C>T (p.Arg69Cys) rs377025174
NM_004328.4(BCS1L):c.269G>A (p.Arg90His) rs747956412
NM_004328.4(BCS1L):c.296C>T (p.Pro99Leu) rs121908572
NM_004328.4(BCS1L):c.320+1G>T rs386833856
NM_004328.4(BCS1L):c.547C>T (p.Arg183Cys) rs144885874
NM_004328.4(BCS1L):c.550C>T (p.Arg184Cys) rs121908578
NM_004328.4(BCS1L):c.598C>T (p.Arg200Ter) rs776838028
NM_004328.4(BCS1L):c.613G>A (p.Val205Ile) rs148278887
NM_004328.4(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_004328.4(BCS1L):c.703G>A (p.Gly235Arg) rs368486097
NM_004328.4(BCS1L):c.822G>A (p.Pro274=) rs112329020
NM_004328.4(BCS1L):c.871C>T (p.Arg291Ter) rs201454788
NM_004328.4(BCS1L):c.889+1G>T rs1057516346
NM_004328.4(BCS1L):c.996C>T (p.Asn332=) rs33946522

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