ClinVar Miner

Variants with conflicting interpretations between Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ and Génétique des Maladies du Développement, Hospices Civils de Lyon

Minimum review status of the submission from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+: Collection method of the submission from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+:
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
13 8 0 3 1 0 0 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.

pathogenic likely benign
likely pathogenic 3 0
uncertain significance 0 1

All variants with conflicting interpretations #

Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_001040142.2(SCN2A):c.1399G>T (p.Ala467Ser) rs745774658
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387

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.