ClinVar Miner

Variants from Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations with conflicting interpretations

Location: Russian Federation — Primary collection method: clinical testing
Minimum review status of the submission from Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations: Collection method of the submission from Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations:
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
69 13 0 5 1 0 5 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
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations likely pathogenic uncertain significance likely benign
pathogenic 5 1 0
likely pathogenic 0 2 0
uncertain significance 2 0 1

Submitter to submitter summary #

Total submitters: 7
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
Center for Medical Genetics Ghent,University of Ghent 0 6 0 2 0 0 2 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 7 0 2 0 0 0 2
GeneDx 0 6 0 0 0 0 2 2
Institute of Human Genetics,Cologne University 0 0 0 1 0 0 0 1
Blueprint Genetics 0 0 0 0 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 1 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000138.4(FBN1):c.3650G>A (p.Gly1217Asp) rs1555398397
NM_000138.4(FBN1):c.5966G>T (p.Cys1989Phe) rs1597531796
NM_000138.4(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.4(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057
NM_000138.5(FBN1):c.3337+1G>A rs397515789
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu) rs730880837
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171

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.