ClinVar Miner

Variants with conflicting interpretations studied for Diastrophic dysplasia

Coded as:
Minimum review status of the submission for Diastrophic dysplasia: Y axis collection method of the submission for Diastrophic 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
12 109 16 9 1 0 2 22

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
Diastrophic dysplasia pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 8 4 0 0 0
likely pathogenic 3 6 2 0 0
uncertain significance 0 0 0 1 0
likely benign 0 0 0 0 4
benign 0 0 0 1 2

Condition to condition summary #

Total conditions: 13
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
Multiple epiphyseal dysplasia 4 0 113 9 4 0 0 0 12
Achondrogenesis, type IB; Atelosteogenesis type 2; Multiple epiphyseal dysplasia 4; Diastrophic dysplasia 0 2 7 4 0 0 1 9
Diastrophic dysplasia 134 0 6 3 0 0 0 9
Osteochondrodysplasia 0 93 7 3 0 0 0 9
Achondrogenesis, type IB 0 21 6 2 0 0 0 8
not provided 0 3 7 3 0 0 0 8
Atelosteogenesis type 2 0 20 4 3 0 0 0 7
not specified 0 1 2 4 1 0 0 6
SLC26A2-Related Disorders 0 0 3 0 0 0 1 4
Achondrogenesis 0 92 1 1 0 0 0 2
Atelosteogenesis 0 92 1 1 0 0 0 2
Diastrophic dysplasia, broad bone-platyspondylic variant 0 0 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_000112.3(SLC26A2):c.-26+2T>C rs386833492
NM_000112.3(SLC26A2):c.1011_1013TGT[3] (p.Val341del) rs121908077
NM_000112.3(SLC26A2):c.1273A>G (p.Asn425Asp) rs104893920
NM_000112.3(SLC26A2):c.1361A>C (p.Gln454Pro) rs104893921
NM_000112.3(SLC26A2):c.1394del (p.Leu465fs) rs386833495
NM_000112.3(SLC26A2):c.1410A>G (p.Val470=) rs115777661
NM_000112.3(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079
NM_000112.3(SLC26A2):c.1650del (p.Ser551fs) rs386833497
NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000112.3(SLC26A2):c.1976del (p.Phe658_Leu659insTer) rs386833499
NM_000112.3(SLC26A2):c.2033G>T (p.Gly678Val) rs104893916
NM_000112.3(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070
NM_000112.3(SLC26A2):c.2220A>G (p.Ter740=) rs61732052
NM_000112.3(SLC26A2):c.391del (p.Leu131fs) rs786200881
NM_000112.3(SLC26A2):c.403C>A (p.Gln135Lys) rs386833504
NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919
NM_000112.3(SLC26A2):c.55G>T (p.Gly19Ter) rs386833507
NM_000112.3(SLC26A2):c.655A>G (p.Ile219Val) rs35919114
NM_000112.3(SLC26A2):c.700-1G>C rs200963884
NM_000112.3(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615

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