ClinVar Miner

Variants in gene L1CAM 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
164 29 0 11 8 1 2 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 association
pathogenic 0 1 1 0 0 0
likely pathogenic 2 0 1 1 1 1
uncertain significance 1 0 0 4 5 0
likely benign 0 0 4 0 9 0
benign 0 0 5 9 0 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_001278116.2(L1CAM):c.1939+5G>A rs879253716
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) rs199592861
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu) rs149737236
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met) rs149309725
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=) rs202082978
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=) rs139393266
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His) rs781908326
NM_001278116.2(L1CAM):c.3412C>G (p.Leu1138Val) rs781860875
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=) rs142277193
NM_001278116.2(L1CAM):c.3642C>T (p.Ser1214=) rs782341083
NM_001278116.2(L1CAM):c.3672G>A (p.Ser1224=) rs146526273
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=) rs140678848
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625
NM_001278116.2(L1CAM):c.400+9C>T rs201057718
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) rs797044787
NM_001278116.2(L1CAM):c.984C>T (p.Thr328=) rs200638763
Single allele rs782713149

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