ClinVar Miner

Variants from University Children's Hospital, University of Zurich with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from University Children's Hospital, University of Zurich: Collection method of the submission from University Children's Hospital, University of Zurich:
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
94 10 0 3 0 1 1 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
University Children's Hospital, University of Zurich likely pathogenic uncertain significance risk factor
pathogenic 3 1 1

Submitter to submitter summary #

Total submitters: 3
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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
Counsyl 0 3 0 3 0 0 0 3
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 0 1 1
Laboratorio di Genetica e Neuroscienze,Istituto Giannina Gaslini 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 5
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HGVS dbSNP
NM_000255.3(MMUT):c.1084-2A>G rs879253839
NM_000255.3(MMUT):c.1489G>T (p.Glu497Ter) rs879253844
NM_005957.4(MTHFR):c.1004G>A (p.Arg335His) rs543016186
NM_005957.4(MTHFR):c.1683G>A (p.Trp561Ter) rs786204030
NM_172250.3(MMAA):c.733+1G>A rs779939886

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