ClinVar Miner

Variants from Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital with conflicting interpretations

Location: Norway — Primary collection method: clinical testing
Minimum review status of the submission from Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital: Collection method of the submission from Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital:
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
15 4 0 4 2 1 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
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital pathogenic uncertain significance drug response
likely pathogenic 4 1 0
benign 1 2 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
OMIM 0 4 0 3 0 0 0 3
Ambry Genetics 0 0 0 0 1 0 1 2
GeneDx 0 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 0 1 1
Fulgent Genetics 0 0 0 1 0 0 0 1
Albrecht-Kossel-Institute,Medical University Rostock 0 0 0 0 1 1 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_000169.2(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_005120.2(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_031407.6(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_031407.6(HUWE1):c.12317A>G (p.Tyr4106Cys) rs1556913180
NM_031407.6(HUWE1):c.1978G>A (p.Gly660Arg) rs1557006903
NM_031407.6(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876

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