ClinVar Miner

Variants in gene EVC2 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
183 26 0 32 25 0 2 48

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 6 2 0 0
likely pathogenic 6 0 0 0 0
uncertain significance 2 0 0 20 16
likely benign 0 0 20 0 26
benign 0 0 16 26 0

All variants with conflicting interpretations #

Total variants: 48
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.1224C>T (p.Ala408=) rs114629810
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.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.2029C>A (p.Arg677=) rs73198165
NM_147127.4(EVC2):c.2047-9A>T rs73198154
NM_147127.4(EVC2):c.2151C>T (p.His717=) rs144584049
NM_147127.4(EVC2):c.2244C>T (p.Thr748=) rs146588335
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.2601C>T (p.Ala867=) rs116514447
NM_147127.4(EVC2):c.2620C>T (p.Arg874Ter) rs760382778
NM_147127.4(EVC2):c.2707-5T>C rs186058156
NM_147127.4(EVC2):c.2848C>T (p.Arg950Trp) rs137852928
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.3141G>A (p.Trp1047Ter) rs886037764
NM_147127.4(EVC2):c.3253C>T (p.Leu1085=) rs112554914
NM_147127.4(EVC2):c.3272+8G>A rs201800139
NM_147127.4(EVC2):c.3360+1G>A rs1553815019
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.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.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_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379

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