ClinVar Miner

Variants with conflicting interpretations studied for Chondroectodermal dysplasia; Curry-Hall syndrome

Coded as:
Minimum review status of the submission for Chondroectodermal dysplasia; Curry-Hall syndrome: Y axis collection method of the submission for Chondroectodermal dysplasia; Curry-Hall syndrome:
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
15 19 0 34 22 0 3 49

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; Curry-Hall syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 1 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 0 1 0 2 1
likely benign 0 0 4 0 0
benign 0 0 17 29 0

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
Ellis-van Creveld Syndrome 0 12 0 16 16 0 0 30
not specified 0 21 0 16 3 0 0 18
not provided 0 13 0 7 7 0 1 14
Curry-Hall syndrome 0 7 0 9 2 0 0 10
Chondroectodermal dysplasia 0 5 0 4 2 0 1 7
Chondroectodermal dysplasia; Curry-Hall syndrome 81 1 0 0 1 0 0 1
EVC-Related Disorders 0 0 0 0 0 0 1 1
Short rib-polydactyly syndrome, Majewski type 0 1 0 1 0 0 0 1
Type IV short rib polydactyly syndrome 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 49
Download table as spreadsheet
HGVS dbSNP
NM_147127.4(EVC2):c.1059C>T (p.Gly353=) rs77793386
NM_147127.4(EVC2):c.1198A>G (p.Thr400Ala) rs138972736
NM_147127.4(EVC2):c.122C>A (p.Pro41His) rs544397395
NM_147127.4(EVC2):c.1311A>G (p.Leu437=) rs77131452
NM_147127.4(EVC2):c.1341C>T (p.Tyr447=) rs186349183
NM_147127.4(EVC2):c.1364C>G (p.Thr455Arg) rs141287105
NM_147127.4(EVC2):c.1384A>G (p.Thr462Ala) rs73063795
NM_147127.4(EVC2):c.142_151del10 (p.Asp49Trpfs) rs1221185345
NM_147127.4(EVC2):c.1711-11_1711-10dupTT rs35103377
NM_147127.4(EVC2):c.1730T>C (p.Met577Thr) rs113869406
NM_147127.4(EVC2):c.1823G>A (p.Arg608His) rs145693546
NM_147127.4(EVC2):c.2151C>T (p.His717=) rs144584049
NM_147127.4(EVC2):c.2263C>T (p.Gln755Ter) rs751356206
NM_147127.4(EVC2):c.2517A>G (p.Ser839=) rs756424912
NM_147127.4(EVC2):c.2620C>T (p.Arg874Ter) rs760382778
NM_147127.4(EVC2):c.2707-5T>C rs186058156
NM_147127.4(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236
NM_147127.4(EVC2):c.3040C>G (p.Leu1014Val) rs75829835
NM_147127.4(EVC2):c.307T>C (p.Leu103=) rs140877783
NM_147127.4(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138
NM_147127.4(EVC2):c.3272+8G>A rs201800139
NM_147127.4(EVC2):c.3557+10G>A rs116218656
NM_147127.4(EVC2):c.3659+2T>C rs200300612
NM_147127.4(EVC2):c.3659+8T>C rs200119306
NM_147127.4(EVC2):c.675A>G (p.Gly225=) rs74930168
NM_147127.4(EVC2):c.692A>G (p.Lys231Arg) rs114024753
NM_147127.4(EVC2):c.707-4G>A rs113806963
NM_147127.4(EVC2):c.814C>T (p.Arg272Trp) rs114142742
NM_147127.4(EVC2):c.864C>T (p.Asn288=) rs144730069
NM_147127.4(EVC2):c.887G>C (p.Gly296Ala) rs201083070
NM_147127.4(EVC2):c.904T>A (p.Phe302Ile) rs138728350
NM_147127.4(EVC2):c.913G>T (p.Ala305Ser) rs150367317
NM_147127.4(EVC2):c.92T>C (p.Leu31Pro) rs557830930
NM_153717.2(EVC):c.1328G>A (p.Arg443Gln) rs35953626
NM_153717.2(EVC):c.1369G>A (p.Glu457Lys) rs141859946
NM_153717.2(EVC):c.1770C>T (p.Asp590=) rs141755737
NM_153717.2(EVC):c.1826G>A (p.Arg609Gln) rs41269557
NM_153717.2(EVC):c.1855G>A (p.Val619Ile) rs111293777
NM_153717.2(EVC):c.2236C>T (p.Gln746Ter) rs1446547358
NM_153717.2(EVC):c.2279G>A (p.Arg760Gln) rs2279252
NM_153717.2(EVC):c.2341G>A (p.Val781Met) rs370514515
NM_153717.2(EVC):c.2363G>A (p.Arg788His) rs73795088
NM_153717.2(EVC):c.2373G>A (p.Gln791=) rs73795089
NM_153717.2(EVC):c.2505G>A (p.Ser835=) rs115976359
NM_153717.2(EVC):c.284A>G (p.Asp95Gly) rs41269547
NM_153717.2(EVC):c.2872G>A (p.Asp958Asn) rs35287723
NM_153717.2(EVC):c.617G>A (p.Ser206Asn) rs1017946059
NM_153717.2(EVC):c.904_906delAAG (p.Lys302del) rs755381180
NM_153717.2(EVC):c.928C>G (p.Leu310Val) rs145300726

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