ClinVar Miner

Variants from Raymond Lab, University of Cambridge with conflicting interpretations

Location: United Kingdom  Primary collection method: research
Minimum review status of the submission from Raymond Lab, University of Cambridge: Collection method of the submission from Raymond Lab, University of Cambridge:
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
30 0 0 3 0 0 1 3

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.

All submitters
Raymond Lab, University of Cambridge pathogenic likely pathogenic uncertain significance
pathogenic 0 2 1
likely pathogenic 1 0 0

Submitter to submitter summary #

Total submitters: 6
Download table as spreadsheet
Submitter 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
Baylor Genetics 0 0 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 0 1
Prof. Thelma's Laboratory, Department of Genetics, University of Delhi South Campus 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) rs1135402761
Single allele

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