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

Minimum review status of the submission from Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version: 2024-06-30

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
19	3	0	4	1	0	1	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
	pathogenic	0	1
	likely pathogenic	4	0
	benign	0	1

Submitter to submitter summary #

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	4	0	3	0	0	0	3
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	0	0	1
Illumina Laboratory Services, Illumina	0	0	0	0	0	0	1	1
Duke University Health System Sequencing Clinic, Duke University Health System	0	0	0	1	0	0	0	1
Albrecht-Kossel-Institute, Medical University Rostock	0	0	0	0	1	0	0	1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	0	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	0	0	1
3billion	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000169.3(GLA):c.490G>T (p.Val164Leu)	rs869312144
NM_006182.4(DDR2):c.2219A>G (p.Tyr740Cys)	rs1558081627
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)	rs1556914274
NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys)	rs1556913180
NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg)	rs1557006903
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)	rs886041876