ClinVar Miner

Variants in gene combination SCO2, TYMP with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
43 14 0 8 6 0 2 14

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 pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 1 1
likely pathogenic 1 0 1 0 0
uncertain significance 1 1 0 3 4
likely benign 1 0 3 0 7
benign 1 0 4 7 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
NM_001169109.1(SCO2):c.-14+479C>T rs372620403
NM_001169109.1(SCO2):c.-14+486G>A rs369012029
NM_001257988.1(TYMP):c.1074A>G (p.Arg358=) rs372847627
NM_001257988.1(TYMP):c.1159+5G>A rs748559929
NM_001257988.1(TYMP):c.1176C>T (p.Val392=) rs770533125
NM_001257988.1(TYMP):c.1290G>A (p.Arg430=) rs570574111
NM_001257988.1(TYMP):c.1300+1G>A rs1064792878
NM_001257988.1(TYMP):c.1393G>A (p.Ala465Thr) rs112723255
NM_001257988.1(TYMP):c.1401C>T (p.Phe467=) rs1061205
NM_001257988.1(TYMP):c.1412C>T (p.Ser471Leu) rs11479
NM_001257988.1(TYMP):c.1443G>A (p.Gln481=) rs377497287
NM_001257988.1(TYMP):c.831G>A (p.Leu277=) rs8141558
NM_001257988.1(TYMP):c.972C>T (p.Ala324=) rs131804
NM_001953.4(TYMP):c.929-6_929-3del rs201685922

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.