Variants from Centre for Genomic and Experimental Medicine, University of Edinburgh with conflicting interpretations

Minimum review status of the submission from Centre for Genomic and Experimental Medicine, University of Edinburgh:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Centre for Genomic and Experimental Medicine, University of Edinburgh:	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
74	9	0	9	0	0	3	12

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
Centre for Genomic and Experimental Medicine, University of Edinburgh		pathogenic	likely pathogenic	uncertain significance	likely benign
	pathogenic	0	3	0	0
	likely pathogenic	6	0	3	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
Ambry Genetics	0	8	0	5	0	0	3	8
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	0	2	0	2	0	0	3	5
Color Diagnostics, LLC DBA Color Health	0	1	0	0	0	0	3	3
Invitae	0	6	0	2	0	0	0	2
Counsyl	0	0	0	1	0	0	0	1
Illumina Laboratory Services, Illumina	0	0	0	1	0	0	0	1
Yale Center for Mendelian Genomics, Yale University	0	0	0	1	0	0	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	1	0	1	0	0	0	1
All of Us Research Program, National Institutes of Health	0	0	0	0	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)	rs142546324	0.00038
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)	rs397515540	0.00021
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)	rs201309310	0.00016
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)	rs34321232	0.00011
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)	rs121908173	0.00010
NM_000138.5(FBN1):c.1468+5G>A	rs397515757
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)	rs794728195
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter)	rs1555394142
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)	rs775696136
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)	rs104893809
NM_004612.4(TGFBR1):c.974-2A>G	rs1554701881
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter)	rs886037764