ClinVar Miner

Variants from Centre of Medical Genetics, University of Antwerp with conflicting interpretations

Location: Belgium — Primary collection method: research
Minimum review status of the submission from Centre of Medical Genetics, University of Antwerp: Collection method of the submission from Centre of Medical Genetics, University of Antwerp:
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
49 15 0 1 0 0 4 4

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
Centre of Medical Genetics, University of Antwerp pathogenic likely pathogenic uncertain significance
pathogenic 0 1 3
uncertain significance 1 1 0

Submitter to submitter summary #

Total submitters: 5
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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
GeneDx 0 2 0 1 0 0 0 1
Ambry Genetics 0 1 0 0 0 0 1 1
Invitae 0 1 0 0 0 0 1 1
Centre of Medical Genetics, University of Antwerp 67 0 0 0 0 0 1 1
Molecular and Medical Genetics Group,King's College London 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 4
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HGVS dbSNP
NM_005585.4(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg) rs754529382
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616
NM_019074.4(DLL4):c.799C>A (p.Pro267Thr) rs796065349

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