ClinVar Miner

Variants in gene LAMB3 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 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
173 23 3 10 0 0 6 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 3 9 1 1 0
likely pathogenic 9 0 4 0 0
uncertain significance 1 4 0 0 0
likely benign 1 0 0 0 1
benign 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_000228.2(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000228.2(LAMB3):c.1132+5G>A rs770302956
NM_000228.2(LAMB3):c.1188C>T (p.Thr396=) rs115883756
NM_000228.2(LAMB3):c.124C>T (p.Arg42Ter) rs80356680
NM_000228.2(LAMB3):c.1365_1366delCA (p.Asn456Argfs) rs769967565
NM_000228.2(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805
NM_000228.2(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682
NM_000228.2(LAMB3):c.1978C>T (p.Arg660Ter) rs146794392
NM_000228.2(LAMB3):c.2011delC (p.Leu671Trpfs) rs1057516822
NM_000228.2(LAMB3):c.225_226delCA (p.His75Glnfs) rs886045870
NM_000228.2(LAMB3):c.2288delG (p.Gly763Alafs) rs886041893
NM_000228.2(LAMB3):c.2346delC (p.Thr783Profs) rs1057516486
NM_000228.2(LAMB3):c.298+2T>C rs1057517312
NM_000228.2(LAMB3):c.499_500delAG (p.Ser167Leufs) rs1057516241
NM_000228.2(LAMB3):c.596G>C (p.Gly199Ala) rs121912486
NM_000228.2(LAMB3):c.628+1G>A rs1057516539
NM_000228.2(LAMB3):c.628+42G>A rs587776812
NM_000228.2(LAMB3):c.727C>T (p.Gln243Ter) rs80356681
NM_000228.2(LAMB3):c.978delC (p.Phe327Leufs) rs763559509

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