ClinVar Miner

Variants from Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust with conflicting interpretations

Location: United Kingdom — Primary collection method: not provided
Minimum review status of the submission from Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust: Collection method of the submission from Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust:
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
20 1 0 3 2 0 0 5

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
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust likely benign benign
uncertain significance 1 2
likely benign 0 3

Submitter to submitter summary #

Total submitters: 5
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
Athena Diagnostics Inc 0 0 0 1 1 0 0 2
PreventionGenetics 0 0 0 1 1 0 0 2
Invitae 0 0 0 1 1 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 1 1 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 4 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_000356.3(TCOF1):c.4146_4148delGAA (p.Lys1383del) rs151344581
NM_001135244.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167
NM_001135244.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143
NM_001135244.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843
NM_001135244.1(TCOF1):c.579G>A (p.Ala193=) rs142965998

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.