ClinVar Miner

Variants with conflicting interpretations between Department of Genetics,Sultan Qaboos University Hospital, Oman and GeneReviews

Minimum review status of the submission from Department of Genetics,Sultan Qaboos University Hospital, Oman: Collection method of the submission from Department of Genetics,Sultan Qaboos University Hospital, Oman:
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
2 10 3 2 0 0 4 9

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 3
likely pathogenic 2
uncertain significance 4

All variants with conflicting interpretations #

Total variants: 9
Download table as spreadsheet
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000137.4(FAH):c.1062+5G>A rs80338901
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371
NM_003122.4(SPINK1):c.199C>T (p.Arg67Cys) rs515726208
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) rs80356756
NM_012463.4(ATP6V0A2):c.294+1G>A rs80356751
NM_015488.5(PNKD):c.20C>T (p.Ala7Val) rs121434512

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