ClinVar Miner

Variants in gene RMRP with conflicting interpretations

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
178 12 1 7 2 0 4 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 1 6 1 0 0
likely pathogenic 6 0 3 0 0
uncertain significance 1 3 0 2 0
likely benign 0 0 2 0 1
benign 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NR_003051.3(RMRP):n.-19_-13dupTCTGTGA rs1554651506
NR_003051.3(RMRP):n.-22_-13dupTACTCTGTGA rs1554651507
NR_003051.3(RMRP):n.-23C>G rs188660894
NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-24_-18dup rs1554651543
NR_003051.3(RMRP):n.140A>G rs578091934
NR_003051.3(RMRP):n.148C>T rs1085307765
NR_003051.3(RMRP):n.195dupT rs796065036
NR_003051.3(RMRP):n.51C>T rs1064793373
NR_003051.3(RMRP):n.64C>T rs786204684
NR_003051.3(RMRP):r.-4A>G rs555890962
NR_003051.3(RMRP):r.146C>T rs757576534
NR_003051.3(RMRP):r.147G>A rs753874439
RMRP:n.71A>G rs199476103

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.