ClinVar Miner

Variants with conflicting interpretations studied for Ellis-van Creveld Syndrome

Coded as:
Minimum review status of the submission for Ellis-van Creveld Syndrome: Y axis collection method of the submission for Ellis-van Creveld 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
38 160 0 23 31 0 2 54

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
Ellis-van Creveld Syndrome uncertain significance likely benign benign
pathogenic 2 1 0
uncertain significance 0 17 17
likely benign 9 0 22
benign 1 2 0

Condition to condition summary #

Total conditions: 6
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 36 0 17 21 0 1 39
Chondroectodermal dysplasia; Curry-Hall syndrome 0 12 0 16 16 0 0 30
not provided 0 10 0 4 11 0 0 15
Chondroectodermal dysplasia 0 4 0 0 2 0 2 4
Curry-Hall syndrome 0 167 0 1 1 0 0 2
Ellis-van Creveld Syndrome 248 2 0 1 1 0 0 2

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NM_147127.4(EVC2):c.-15G>A rs76269601
NM_147127.4(EVC2):c.-19T>C rs188508515
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.1224C>T (p.Ala408=) rs114629810
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.1364C>G (p.Thr455Arg) rs141287105
NM_147127.4(EVC2):c.1384A>G (p.Thr462Ala) rs73063795
NM_147127.4(EVC2):c.1471-7T>C rs150842594
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.1845C>T (p.Thr615=) rs112747818
NM_147127.4(EVC2):c.1882G>A (p.Glu628Lys) rs186197620
NM_147127.4(EVC2):c.2047-9A>T rs73198154
NM_147127.4(EVC2):c.2601C>T (p.Ala867=) rs116514447
NM_147127.4(EVC2):c.2707-5T>C rs186058156
NM_147127.4(EVC2):c.2883A>C (p.Gly961=) rs149188988
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.3253C>T (p.Leu1085=) rs112554914
NM_147127.4(EVC2):c.3272+8G>A rs201800139
NM_147127.4(EVC2):c.3557+10G>A rs116218656
NM_147127.4(EVC2):c.3837G>A (p.Lys1279=) rs201651890
NM_147127.4(EVC2):c.519+15G>A rs17688121
NM_147127.4(EVC2):c.619G>T (p.Asp207Tyr) rs761707323
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.92T>C (p.Leu31Pro) rs557830930
NM_153717.2(EVC):c.1127C>T (p.Ala376Val) rs142535134
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.1500G>A (p.Met500Ile) rs149898884
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.2279G>A (p.Arg760Gln) rs2279252
NM_153717.2(EVC):c.2341G>A (p.Val781Met) rs370514515
NM_153717.2(EVC):c.2350G>A (p.Ala784Thr) rs149537641
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.2449+15delC rs398092136
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.473C>G (p.Ser158Cys) rs150284356
NM_153717.2(EVC):c.550G>A (p.Asp184Asn) rs41269549
NM_153717.2(EVC):c.934G>A (p.Asp312Asn) rs115275195
NM_153717.2(EVC):c.982C>T (p.Leu328Phe) rs199916502

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