Variants from Institute of Human Genetics, University Medical Center Hamburg-Eppendorf with conflicting interpretations

Minimum review status of the submission from Institute of Human Genetics, University Medical Center Hamburg-Eppendorf:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Institute of Human Genetics, University Medical Center Hamburg-Eppendorf:	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: 2024-12-01

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
27	7	0	8	0	0	3	11

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 Human Genetics, University Medical Center Hamburg-Eppendorf		pathogenic	likely pathogenic	uncertain significance
	pathogenic	0	4	0
	likely pathogenic	4	0	3

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
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	0	0	0	3	0	0	1	4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	2	0	0	1	3
Labcorp Genetics (formerly Invitae), Labcorp	0	2	0	2	0	0	1	3
Color Diagnostics, LLC DBA Color Health	0	0	0	0	0	0	2	2
OMIM	0	1	0	1	0	0	0	1
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	0	0	1	0	0	0	1
Ambry Genetics	0	4	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	1	0	0	0	1
Blueprint Genetics	0	0	0	0	0	0	1	1
Center for Medical Genetics Ghent, University of Ghent	0	2	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)	rs1156984408	0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	rs727503054	0.00002
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)	rs794728208
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)	rs137854480
NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg)	rs1566891701
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)	rs587779388
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)	rs730880147
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn)	rs863223854
NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser)	rs886039176
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys)	rs886039177
NM_005902.4(SMAD3):c.803G>A (p.Arg268His)	rs863223740