ClinVar Miner

Variants from Institute of Human Genetics, University of Ulm with conflicting interpretations

Location: Germany  Primary collection method: research
Minimum review status of the submission from Institute of Human Genetics, University of Ulm: Collection method of the submission from Institute of Human Genetics, University of Ulm:
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
26 8 0 4 0 0 2 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
Institute of Human Genetics, University of Ulm pathogenic likely pathogenic uncertain significance
pathogenic 0 1 0
likely pathogenic 3 0 2

Submitter to submitter summary #

Total submitters: 8
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
OMIM 0 7 0 1 0 0 0 1
Invitae 0 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 0 1 0 0 0 1
3billion 0 5 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr) rs145369252 0.00068
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter) rs121918293 0.00006
NM_152906.7(TANGO2):c.605+1G>A rs372949028 0.00005
NM_000228.3(LAMB3):c.947G>A (p.Cys316Tyr) rs1553277738
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_032581.4(HYCC1):c.722T>G (p.Leu241Ter) rs2128200575

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