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: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
712	43	0	11	4	0	4	19

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	10	2	0	0
likely pathogenic	10	0	2	0	0
uncertain significance	2	2	0	4	0
likely benign	0	0	4	0	1
benign	0	0	0	1	0

All variants with conflicting interpretations #

Total variants: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NR_003051.4(RMRP):n.158G>C	rs7021463	0.17549
NR_003051.4(RMRP):n.129G>C	rs74810894	0.00319
NR_003051.3(RMRP):n.-12A>C	rs372044910	0.00058
NR_003051.4(RMRP):n.141A>G	rs578091934	0.00042
NR_003051.4(RMRP):n.244A>G	rs551450545	0.00010
NR_003051.3(RMRP):n.-22_-13dup	rs1554651507	0.00007
NR_003051.3(RMRP):n.64C>T	rs786204684	0.00004
NR_003051.4(RMRP):n.196dup	rs796065036	0.00004
NR_003051.4(RMRP):n.16G>T	rs902313238	0.00002
NR_003051.4(RMRP):n.195G>A	rs761398394	0.00001
NR_003051.4(RMRP):n.86T>G	rs991322091	0.00001
NR_003051.3(RMRP):n.-22_-3dup	rs1554651411
NR_003051.3(RMRP):n.-24_-10dup	rs727502776
NR_003051.3(RMRP):n.-24_-18dup	rs1554651543
NR_003051.3(RMRP):n.-7_1dup	rs752934195
NR_003051.3(RMRP):n.147G>A	rs753874439
NR_003051.4(RMRP):n.184G>A	rs1554651153
NR_003051.4(RMRP):n.52C>T	rs1064793373
NR_003051.4(RMRP):n.97_98dup	rs1340624774

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