ClinVar Miner

Variants with conflicting interpretations studied for Cranioectodermal dysplasia

Coded as:
Minimum review status of the submission for Cranioectodermal dysplasia: Y axis collection method of the submission for Cranioectodermal 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
49 144 0 21 15 0 2 38

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
Cranioectodermal dysplasia pathogenic likely pathogenic likely benign benign
pathogenic 0 1 0 0
likely pathogenic 1 0 0 0
uncertain significance 2 1 10 7
likely benign 0 0 0 18
benign 0 0 1 0

Condition to condition summary #

Total conditions: 10
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 9 0 12 12 0 0 24
Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 0 2 0 3 2 0 1 6
Cranioectodermal dysplasia 1 0 2 0 4 1 0 1 6
Cranioectodermal dysplasia 2; Short rib polydactyly syndrome 5 0 0 0 4 1 0 0 5
not provided 0 12 0 2 2 0 1 5
Cranioectodermal dysplasia 2 0 0 0 1 0 0 0 1
Jeune thoracic dystrophy 0 53 0 1 0 0 0 1
Multiple Epiphyseal Dysplasia, Dominant 0 2 0 1 0 0 0 1
Nephronophthisis 13; Senior-Loken syndrome 8 0 0 0 0 0 0 1 1
Senior-Loken syndrome 8 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NM_001006657.2(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_001006657.2(WDR35):c.1922T>G (p.Leu641Ter) rs199952377
NM_001006657.2(WDR35):c.2182A>G (p.Ile728Val) rs144493712
NM_001006657.2(WDR35):c.2599G>T (p.Val867Phe) rs149667250
NM_001006657.2(WDR35):c.2632G>A (p.Ala878Thr) rs2293669
NM_001006657.2(WDR35):c.3154+12A>C rs28502265
NM_001006657.2(WDR35):c.3154+3G>A rs200042577
NM_001006657.2(WDR35):c.355C>T (p.Arg119Cys) rs140308808
NM_001006657.2(WDR35):c.53A>G (p.Gln18Arg) rs1060742
NM_001006657.2(WDR35):c.549C>T (p.Tyr183=) rs34169020
NM_001006657.2(WDR35):c.770T>C (p.Val257Ala) rs142955097
NM_002381.5(MATN3):c.1406-4C>T rs35973216
NM_003239.4(TGFB3):c.-614C>T rs11466414
NM_025132.4(WDR19):c.-9A>G rs60800612
NM_025132.4(WDR19):c.1198C>T (p.Leu400=) rs199765304
NM_025132.4(WDR19):c.1357-10T>C rs16995189
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363
NM_025132.4(WDR19):c.852A>G (p.Ser284=) rs17584431
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) rs75964850
NM_052985.4(IFT122):c.109-15T>C rs114298924
NM_052985.4(IFT122):c.1179C>T (p.Asp393=) rs79187669
NM_052985.4(IFT122):c.1256G>A (p.Ser419Asn) rs150550701
NM_052985.4(IFT122):c.1636G>A (p.Gly546Arg) rs397515568
NM_052985.4(IFT122):c.1686G>A (p.Leu562=) rs183614690
NM_052985.4(IFT122):c.1866G>T (p.Ser622=) rs150174636
NM_052985.4(IFT122):c.2146-8C>T rs531091599
NM_052985.4(IFT122):c.2213G>A (p.Arg738Gln) rs61740161
NM_052985.4(IFT122):c.2307C>T (p.His769=) rs116819033
NM_052985.4(IFT122):c.2528+2T>C rs786205567
NM_052985.4(IFT122):c.2568C>T (p.Arg856=) rs61744218
NM_052985.4(IFT122):c.3418+7C>T rs9836202
NM_052985.4(IFT122):c.3456G>T (p.Gly1152=) rs111668739
NM_052985.4(IFT122):c.3585C>T (p.Ile1195=) rs149884307
NM_052985.4(IFT122):c.474A>G (p.Gln158=) rs138793724

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