ClinVar Miner

Variants with conflicting interpretations studied for Otospondylomegaepiphyseal dysplasia

Coded as:
Minimum review status of the submission for Otospondylomegaepiphyseal dysplasia: Y axis collection method of the submission for Otospondylomegaepiphyseal dysplasia:
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 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
5 61 0 26 12 0 0 37

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
Otospondylomegaepiphyseal dysplasia uncertain significance likely benign benign
uncertain significance 0 2 0
likely benign 10 0 26

Condition to condition summary #

Total conditions: 4
Download table as spreadsheet
Condition 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
not specified 0 26 0 25 8 0 0 33
not provided 0 9 0 5 6 0 0 11
Connective tissue disorder 0 4 0 0 2 0 0 2
Deafness, autosomal recessive 53; Deafness, autosomal dominant 13 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_001163771.2(COL11A2):c.688G>T (p.Gly230Trp) rs141430703
NM_080679.2(COL11A2):c.*4C>T rs186720023
NM_080679.2(COL11A2):c.-200G>A rs144092339
NM_080679.2(COL11A2):c.1294C>T (p.Arg432Trp) rs145499142
NM_080679.2(COL11A2):c.1345-11CCT[2] rs147815324
NM_080679.2(COL11A2):c.1461C>T (p.Asp487=) rs41266697
NM_080679.2(COL11A2):c.1861A>T (p.Ile621Phe) rs188490457
NM_080679.2(COL11A2):c.1865G>A (p.Arg622Gln) rs61730262
NM_080679.2(COL11A2):c.1950C>T (p.Gly650=) rs745568808
NM_080679.2(COL11A2):c.2015C>T (p.Pro672Leu) rs150877886
NM_080679.2(COL11A2):c.2199G>A (p.Arg733=) rs117237998
NM_080679.2(COL11A2):c.230C>A (p.Pro77Gln) rs35765893
NM_080679.2(COL11A2):c.2436C>T (p.Gly812=) rs34478777
NM_080679.2(COL11A2):c.2771C>T (p.Pro924Leu) rs528009333
NM_080679.2(COL11A2):c.2790G>T (p.Pro930=) rs146093235
NM_080679.2(COL11A2):c.3262-5T>C rs183536190
NM_080679.2(COL11A2):c.3294C>A (p.Asn1098Lys) rs141967872
NM_080679.2(COL11A2):c.3295C>T (p.Leu1099=) rs147576338
NM_080679.2(COL11A2):c.3333A>G (p.Ser1111=) rs146962984
NM_080679.2(COL11A2):c.3378C>T (p.Arg1126=) rs151098305
NM_080679.2(COL11A2):c.3404C>T (p.Ser1135Leu) rs534570825
NM_080679.2(COL11A2):c.3720G>A (p.Pro1240=) rs139283268
NM_080679.2(COL11A2):c.3944C>T (p.Pro1315Leu) rs555936333
NM_080679.2(COL11A2):c.4062C>T (p.Pro1354=) rs148262058
NM_080679.2(COL11A2):c.4071+12C>T rs117267045
NM_080679.2(COL11A2):c.4137T>A (p.Gly1379=) rs143186319
NM_080679.2(COL11A2):c.4200G>A (p.Gln1400=) rs114580597
NM_080679.2(COL11A2):c.4330C>T (p.Arg1444Trp) rs141254777
NM_080679.2(COL11A2):c.4331G>A (p.Arg1444Gln) rs145343609
NM_080679.2(COL11A2):c.4478G>A (p.Arg1493Gln) rs1799912
NM_080679.2(COL11A2):c.4563G>C (p.Glu1521Asp) rs2229790
NM_080679.2(COL11A2):c.4679G>A (p.Arg1560His) rs146555195
NM_080679.2(COL11A2):c.4750-5T>G rs368309085
NM_080679.2(COL11A2):c.4844C>T (p.Pro1615Leu) rs2229792
NM_080679.2(COL11A2):c.752A>T (p.Gln251Leu) rs201399429
NM_080679.2(COL11A2):c.798+2461G>A rs73741539
NM_080679.2(COL11A2):c.887C>T (p.Pro296Leu) rs201179101

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