ClinVar Miner

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

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Institute of Human Genetics, University Medical Center Hamburg-Eppendorf: Collection method of the submission from Institute of Human Genetics, University Medical Center Hamburg-Eppendorf:
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 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 #

Total submitters: 13
Download table as spreadsheet
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 #

Total variants: 11
Download table as spreadsheet
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.