ClinVar Miner

Variants in gene combination LOC101927870, RELN 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
117 16 0 13 10 1 3 22

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 uncertain significance likely benign benign association
pathogenic 0 2 1 1 0
likely pathogenic 1 1 1 1 1
uncertain significance 2 0 10 2 0
likely benign 1 10 0 12 0
benign 1 2 12 0 0

All variants with conflicting interpretations #

Total variants: 22
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NM_005045.4(RELN):c.10026G>A (p.Thr3342=) rs542352292
NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120
NM_005045.4(RELN):c.10182-11G>A rs57844600
NM_005045.4(RELN):c.8120-9T>C rs74952625
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039
NM_005045.4(RELN):c.8154A>T (p.Thr2718=) rs1554367205
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862
NM_005045.4(RELN):c.8667+9_8667+13del rs755797350
NM_005045.4(RELN):c.8811G>A (p.Ala2937=) rs144728023
NM_005045.4(RELN):c.8843+3A>C rs200124755
NM_005045.4(RELN):c.8843+7G>C rs2711885
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys) rs114501042
NM_005045.4(RELN):c.9172T>C (p.Leu3058=) rs2286261
NM_005045.4(RELN):c.9340A>G (p.Ile3114Val) rs149613347
NM_005045.4(RELN):c.9414C>T (p.Ser3138=) rs375427974
NM_005045.4(RELN):c.9524A>C (p.His3175Pro) rs74513461
NM_005045.4(RELN):c.9714C>T (p.His3238=) rs78218774
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410
NM_005045.4(RELN):c.9825C>T (p.Ser3275=) rs149713137
NM_005045.4(RELN):c.9903C>T (p.Tyr3301=) rs73714404
Single allele

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