ClinVar Miner

Variants from Department of Vascular Biology,Beijing Anzhen Hospital with conflicting interpretations

Location: unspecified — Primary collection method: research
Minimum review status of the submission from Department of Vascular Biology,Beijing Anzhen Hospital: Collection method of the submission from Department of Vascular Biology,Beijing Anzhen Hospital:
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
70 11 0 12 2 0 5 18

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
Department of Vascular Biology,Beijing Anzhen Hospital pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 12 0 2 0 0
uncertain significance 2 2 0 2 1

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
GeneDx 0 6 0 9 2 0 3 14
Ambry Genetics 0 5 0 5 2 0 3 10
Integrated Genetics/Laboratory Corporation of America 0 3 0 5 1 0 1 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 5 0 0 0 5
OMIM 0 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 0 1 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 0 1 1
Blueprint Genetics 0 1 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 1 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_000138.4(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.4(FBN1):c.2639G>A (p.Gly880Asp) rs886038953
NM_000138.4(FBN1):c.2723G>A (p.Cys908Tyr) rs1057523406
NM_000138.4(FBN1):c.2926C>T (p.Arg976Cys) rs548296552
NM_000138.4(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.4(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.4(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.4(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) rs113905529
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853

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