ClinVar Miner

Variants from Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust with conflicting interpretations

Location: United Kingdom — Primary collection method: clinical testing
Minimum review status of the submission from Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust: Collection method of the submission from Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation 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
25 0 0 1 0 6 0 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
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust pathogenic likely pathogenic uncertain significance
likely pathogenic 1 0 0
drug response 4 6 2

Submitter to submitter summary #

Total submitters: 10
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
Database of Curated Mutations (DoCM) 0 0 0 0 0 5 0 5
Invitae 0 0 0 0 0 4 0 4
OMIM 0 0 0 1 0 1 0 2
GeneDx 0 0 0 0 0 2 0 2
Ambry Genetics 0 0 0 0 0 2 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 0 1 0 1
Pathway Genomics 0 0 0 0 0 1 0 1
Color 0 0 0 0 0 1 0 1
Yale Center for Mendelian Genomics,Yale University 0 0 0 0 0 1 0 1
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 7
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HGVS dbSNP
NM_000546.5(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.5(TP53):c.853G>A (p.Glu285Lys) rs112431538
NM_002524.4(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_006164.4(NFE2L2):c.91G>A (p.Gly31Arg) rs1553488015
NM_006218.3(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006231.3(POLE):c.857C>G (p.Pro286Arg) rs1057519943

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