ClinVar Miner

Variants in gene EVC 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
140 161 0 17 11 0 5 31

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 1 0
likely pathogenic 6 0 3 0 0
uncertain significance 2 3 0 9 3
likely benign 1 0 9 0 11
benign 0 0 3 11 0

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
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.1653G>A (p.Pro551=) rs151293705
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.2304+2T>C rs1553892090
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.2782+1G>T rs1007534611
NM_153717.2(EVC):c.2821C>T (p.Gln941Ter) rs896581899
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.2894+3A>G rs1424976594
NM_153717.2(EVC):c.363C>A (p.Tyr121Ter) rs748523193
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.617G>A (p.Ser206Asn) rs1017946059
NM_153717.2(EVC):c.904_906delAAG (p.Lys302del) rs755381180
NM_153717.2(EVC):c.919T>C (p.Ser307Pro) rs121908426
NM_153717.2(EVC):c.928C>G (p.Leu310Val) rs145300726
NM_153717.2(EVC):c.934G>A (p.Asp312Asn) rs115275195
NM_153717.2(EVC):c.982C>T (p.Leu328Phe) rs199916502

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