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 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
21 7 0 6 0 0 7 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
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf pathogenic likely pathogenic uncertain significance
pathogenic 0 3 2
likely pathogenic 3 0 5

Submitter to submitter summary #

Total submitters: 15
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
GeneDx 0 1 0 3 0 0 4 7
Invitae 0 4 0 3 0 0 2 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 3 0 0 0 3
Center for Medical Genetics Ghent,University of Ghent 0 3 0 1 0 0 2 3
OMIM 0 5 0 2 0 0 0 2
Center for Human Genetics, Inc 0 0 0 2 0 0 0 2
Ambry Genetics 0 3 0 0 0 0 2 2
Integrated Genetics/Laboratory Corporation of America 0 2 0 2 0 0 0 2
Blueprint Genetics, 0 0 0 1 0 0 1 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 0 1
Fulgent Genetics 0 2 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 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

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000138.4(FBN1):c.1570dup (p.Thr524Asnfs) rs1555400274
NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.4(FBN1):c.3937G>A (p.Gly1313Ser) rs1156984408
NM_000138.4(FBN1):c.5495G>A (p.Arg1832His) rs764203302
NM_000138.4(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.4(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_001040114.1(MYH11):c.3787_3789delAAG (p.Lys1263del) rs730880147
NM_002317.7(LOX):c.125G>A (p.Trp42Ter) rs886040966
NM_003242.5(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys) rs886039177
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740

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