ClinVar Miner

Variants from Clinical Genetics laboratory, University of Goettingen with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Clinical Genetics laboratory, University of Goettingen: Collection method of the submission from Clinical Genetics laboratory, University of Goettingen:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
244 11 0 2 1 0 3 6

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
Clinical Genetics laboratory, University of Goettingen pathogenic uncertain significance likely benign
likely pathogenic 2 3 0
uncertain significance 0 0 1

Submitter to submitter summary #

Total submitters: 5
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Invitae 0 4 0 0 1 0 2 3
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 3 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Autoinflammatory diseases unit,CHU de Montpellier 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 6
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HGVS dbSNP
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575
NM_001032280.3(TFAP2A):c.749C>T (p.Ala250Val) rs151344531
NM_003482.3(KMT2D):c.11815C>G (p.Gln3939Glu) rs1326092141
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter) rs760571406
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter) rs1555948969
NM_018486.3(HDAC8):c.1112-2A>G rs1131690790

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