ClinVar Miner

Variants with conflicting interpretations between ISCA site 17 and ISCA site 1

Minimum review status of the submission from ISCA site 17: Collection method of the submission from ISCA site 17:
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
0 26 1 0 2 0 3 6

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.

uncertain significance likely benign benign
pathogenic 2 0 1
uncertain significance 1 1 0
benign 1 0 0

All variants with conflicting interpretations #

Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32607357)x3
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1
GRCh38/hg38 4q13.2-13.3(chr4:68852530-69850009)x3
GRCh38/hg38 4q35.2(chr4:189111218-189975519)x1
GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x1

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