ClinVar Miner

Variants with conflicting interpretations between Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital and Invitae

Minimum review status of the submission from Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital: Collection method of the submission from Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital:
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
34 15 0 2 4 0 2 8

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 uncertain significance likely benign benign
likely pathogenic 2 1 1 0
uncertain significance 0 0 3 1

All variants with conflicting interpretations #

Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) rs117134265 0.00019
NM_004560.4(ROR2):c.2117G>A (p.Arg706Gln) rs369717474 0.00013
NM_004560.4(ROR2):c.1930G>A (p.Asp644Asn) rs55798732 0.00011
NM_004560.4(ROR2):c.935G>A (p.Arg312His) rs188376581 0.00007
NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys) rs56231927 0.00006
NM_002470.4(MYH3):c.4357-10G>A rs374066994 0.00001
NM_001042492.3(NF1):c.6705-1G>A rs1060500356
NM_012448.4(STAT5B):c.1102del (p.Gln368fs) rs761761205

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