ClinVar Miner

Variants with conflicting interpretations between Women's Health and Genetics/Laboratory Corporation of America, LabCorp and Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
39 72 0 13 3 0 1 17

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 benign
likely pathogenic 11 1
uncertain significance 0 3
likely benign 0 2

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
NM_000384.3(APOB):c.10520G>C (p.Arg3507Pro) rs201156840
NM_000527.4(LDLR):c.1586+5G>C rs781362878
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly) rs879254753
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.5(LDLR):c.1474G>C (p.Asp492His) rs373646964
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663
NM_000527.5(LDLR):c.1898G>T (p.Arg633Leu) rs754536745
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.5(LDLR):c.622G>T (p.Glu208Ter) rs879254597
NM_001195799.2(LDLR):c.190+2358del rs879254440

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