ClinVar Miner

Variants with conflicting interpretations studied for Hypertrichotic osteochondrodysplasia

Coded as:
Minimum review status of the submission for Hypertrichotic osteochondrodysplasia: Y axis collection method of the submission for Hypertrichotic osteochondrodysplasia:
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
7 18 1 11 12 0 0 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
Hypertrichotic osteochondrodysplasia likely pathogenic uncertain significance likely benign benign
pathogenic 1 0 0 0
uncertain significance 0 1 10 8
likely benign 0 0 0 10

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 0 0 10 11 0 0 21
Cardiomyopathy 0 0 1 5 5 0 0 11
Dilated cardiomyopathy 1O 0 2 0 5 5 0 0 10
Cardiovascular phenotype 0 0 0 4 3 0 0 7

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_005691.3(ABCC9):c.-11T>C rs72559432
NM_005691.3(ABCC9):c.1165-19dup rs35857705
NM_005691.3(ABCC9):c.1165-6del rs35857705
NM_005691.3(ABCC9):c.1296= (p.Pro432=) rs10770865
NM_005691.3(ABCC9):c.1332C>T (p.Gly444=) rs369830406
NM_005691.3(ABCC9):c.1557G>A (p.Glu519=) rs143346402
NM_005691.3(ABCC9):c.1659+10T>C rs201753781
NM_005691.3(ABCC9):c.1848C>T (p.Asp616=) rs61001398
NM_005691.3(ABCC9):c.2093-7T>C rs185235724
NM_005691.3(ABCC9):c.2199-6T>C rs535477725
NM_005691.3(ABCC9):c.2238-17del rs4148670
NM_005691.3(ABCC9):c.2424+9T>C rs11835804
NM_005691.3(ABCC9):c.2631G>A (p.Thr877=) rs139408145
NM_005691.3(ABCC9):c.2644-11G>A rs61926078
NM_005691.3(ABCC9):c.2770-13A>G rs184123387
NM_005691.3(ABCC9):c.2826T>C (p.Tyr942=) rs141025897
NM_005691.3(ABCC9):c.2862C>T (p.Asp954=) rs2291550
NM_005691.3(ABCC9):c.3346C>T (p.Arg1116Cys) rs387907228
NM_005691.3(ABCC9):c.372T>C (p.Asn124=) rs377384557
NM_005691.3(ABCC9):c.407-14C>A rs201279882
NM_005691.3(ABCC9):c.574-5C>A rs3759236
NM_020297.3(ABCC9):c.1164+11A>G rs4762720
NM_020297.3(ABCC9):c.2199-11T>C rs697250

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