ClinVar Miner

Variants from Weber Lab,Hannover Medical School with conflicting interpretations

Location: Germany — Primary collection method: research
Minimum review status of the submission from Weber Lab,Hannover Medical School: Collection method of the submission from Weber Lab,Hannover Medical School:
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
4 1 1 0 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
Weber Lab,Hannover Medical School pathogenic uncertain significance likely benign benign
pathogenic 1 0 0 1
likely pathogenic 0 3 1 1

Submitter to submitter summary #

Total submitters: 7
Download table as spreadsheet
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 0 0 0 1 1
Invitae 0 2 0 0 0 0 1 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 0 0 1 1
GeneReviews 0 0 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 1 0 0 0 0 1 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_002310.5(LIFR):c.1937C>A (p.Thr646Asn) rs79040751
NM_002310.5(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327

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