ClinVar Miner

Variants in gene combination LDB3, LOC110121486 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
94 12 0 7 9 0 0 14

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 3
likely benign 0 0 9 0 6
benign 0 0 3 6 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_007078.3(LDB3):c.690-4621A>G rs370053163 0.00016
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr) rs373632943 0.00015
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys) rs374613600 0.00006
NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr) rs200458194 0.00005
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_007078.3(LDB3):c.690-4617G>A rs754174632 0.00004
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001368067.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_007078.3(LDB3):c.690-4837C>T rs528725791

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