ClinVar Miner

Variants with conflicting interpretations between EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and NIHR Bioresource Rare Diseases, University of Cambridge

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
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
139 12 0 6 1 1 8 13

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
pathogenic 0 5 2 0
likely pathogenic 1 0 1 0
uncertain significance 1 6 0 0
likely benign 1 2 1 0
benign 1 1 1 1
other 1 1 1 0

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) rs41276738
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_017890.4(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
Single allele

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