ClinVar Miner

Variants from Willoughby Group, Queen's University Belfast with conflicting interpretations

Location: United Kingdom — Primary collection method: not provided
Minimum review status of the submission from Willoughby Group, Queen's University Belfast: Collection method of the submission from Willoughby Group, Queen's University Belfast:
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 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
26 0 0 3 1 0 5 7

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
Willoughby Group, Queen's University Belfast likely pathogenic uncertain significance likely benign
pathogenic 1 2 1
likely pathogenic 0 2 0
benign 0 1 2

Submitter to submitter summary #

Total submitters: 4
Download table as spreadsheet
Submitter 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
GeneDx 0 0 0 3 0 0 2 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 1 0 3 4
Illumina Clinical Services Laboratory,Illumina 0 0 0 1 1 0 1 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_001127464.2(ZNF469):c.1020C>T (p.Gly340=) rs273585633
NM_001127464.2(ZNF469):c.2699C>T (p.Pro900Leu) rs273585618
NM_001127464.2(ZNF469):c.7747G>A (p.Glu2583Lys) rs281865151
NM_001127464.2(ZNF469):c.9011_9025delTTCCCGGGAACACCC (p.Leu3004_Thr3008del) rs281865162
NM_001127464.2(ZNF469):c.9047C>T (p.Thr3016Met) rs273585626
NM_001127464.2(ZNF469):c.9471C>G (p.Ala3157=) rs273585636
NM_001127464.2(ZNF469):c.9835A>G (p.Thr3279Ala) rs273585627

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.