ClinVar Miner

Variants with conflicting interpretations studied for Chondroectodermal dysplasia

Coded as:
Minimum review status of the submission for Chondroectodermal dysplasia: Y axis collection method of the submission for Chondroectodermal 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
140 19 0 11 4 0 7 21

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
Chondroectodermal dysplasia pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 1 0 0
likely pathogenic 11 0 2 0 0
uncertain significance 4 2 0 3 2

Condition to condition summary #

Total conditions: 9
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
Chondroectodermal dysplasia 167 6 0 5 0 0 2 7
Chondroectodermal dysplasia; Curry-Hall syndrome 0 10 0 4 2 0 1 7
not provided 0 6 0 3 1 0 2 6
Ellis-van Creveld Syndrome 0 4 0 0 2 0 2 4
not specified 0 2 0 0 3 0 0 3
Curry-Hall syndrome 0 1 0 1 1 0 0 2
Jeune thoracic dystrophy 0 0 0 1 0 0 1 2
Primary ciliary dyskinesia 0 0 0 0 0 0 1 1
Short rib-polydactyly syndrome, Majewski type 0 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3659+2T>C rs200300612
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884
NM_153717.3(EVC):c.2304+2T>C rs1553892090
NM_153717.3(EVC):c.2782+1G>T rs1007534611
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899
NM_153717.3(EVC):c.2894+3A>G rs1424976594
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) rs201780665

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