ClinVar Miner

Variants from UniProtKB/Swiss-Prot with conflicting interpretations

Location: Switzerland — Primary collection method: not provided
Minimum review status of the submission from UniProtKB/Swiss-Prot: Collection method of the submission from UniProtKB/Swiss-Prot:
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
477 440 1 2 2 0 1 4

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
UniProtKB/Swiss-Prot pathogenic uncertain significance likely benign benign
likely pathogenic 1 0 0 0
uncertain significance 1 1 2 1
likely benign 0 0 0 1

Submitter to submitter summary #

Total submitters: 9
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
Invitae 0 96 0 2 2 0 0 4
GeneDx 0 104 0 1 2 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 39 0 1 2 0 0 3
Athena Diagnostics Inc 0 19 0 2 0 0 0 2
Ambry Genetics 0 37 0 1 1 0 0 2
OMIM 0 204 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 19 1 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 5 0 1 0 0 0 1
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_006920.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_006920.4(SCN1A):c.3068T>C (p.Ile1023Thr) rs121918818
NM_018834.5(MATR3):c.254C>G (p.Ser85Cys) rs121434591

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