ClinVar Miner

Variants with conflicting interpretations studied for Metaphyseal chondrodysplasia, McKusick type

Coded as:
Minimum review status of the submission for Metaphyseal chondrodysplasia, McKusick type: Collection method of the submission for Metaphyseal chondrodysplasia, McKusick type:
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
272 33 0 17 0 0 6 23

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.

All conditions
Metaphyseal chondrodysplasia, McKusick type pathogenic likely pathogenic uncertain significance
pathogenic 0 17 2
likely pathogenic 17 0 4
uncertain significance 2 4 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Metaphyseal chondrodysplasia, McKusick type 272 33 0 17 0 0 6 23

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NR_003051.4(RMRP):n.72A>G rs199476103 0.00123
NR_003051.4(RMRP):n.240C>T rs749667892 0.00016
NR_003051.4(RMRP):n.181dup rs940080676 0.00015
NR_003051.4(RMRP):n.244A>G rs551450545 0.00010
NR_003051.3(RMRP):n.-22_-13dup10 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.-20_-1dup rs1554651403 0.00001
NR_003051.4(RMRP):n.-21_-13dup rs1563908167 0.00001
NR_003051.4(RMRP):n.195G>A rs761398394 0.00001
NR_003051.4(RMRP):n.232C>T rs762145032 0.00001
NC_000009.12:g.35657872C>T rs753874439
NC_000009.12:g.35658032_35658041dup rs1554651524
NC_000009.12:g.35658036_35658042dup rs1554651543
NR_003051.3(RMRP):n.-24_-10dup15 rs727502776
NR_003051.3(RMRP):n.-7_1dup8 rs752934195
NR_003051.4(RMRP):n.-21_-2dup rs1554651411
NR_003051.4(RMRP):n.-23_-14dup rs1554651532
NR_003051.4(RMRP):n.-7_-6insGGGACTACTCTGTGAAGCTG rs1554651471
NR_003051.4(RMRP):n.184G>A rs1554651153
NR_003051.4(RMRP):n.244A>C rs551450545
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG rs1383432106
NR_003051.4(RMRP):n.97_98dup rs1340624774

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