ClinVar Miner

Variants from Institute of Medical Genetics, University of Zurich with conflicting interpretations

Location: Switzerland  Primary collection method: clinical testing
Minimum review status of the submission from Institute of Medical Genetics, University of Zurich: Collection method of the submission from Institute of Medical Genetics, 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 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
23 12 0 4 0 0 1 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
Institute of Medical Genetics, University of Zurich pathogenic likely pathogenic uncertain significance
pathogenic 0 3 1
likely pathogenic 1 0 0

Submitter to submitter summary #

Total submitters: 11
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
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 4 0 1 0 0 1 2
Invitae 0 10 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 2 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 1 0 0 0 1
Medical Genetics, University of Parma 0 3 0 1 0 0 0 1
Genome-Nilou Lab 0 5 0 1 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 0 0 0 1 0 0 0 1
3billion 0 2 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957

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