ClinVar Miner

Variants in gene NEBL with conflicting interpretations

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 per condition Variants with at least 2 submissions on the same condition 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 conflict
420 50 0 9 10 0 0 19

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.

uncertain significance likely benign benign
uncertain significance 0 8 2
likely benign 8 0 9
benign 2 9 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
NM_006393.3(NEBL):c.120A>G (p.Glu40=) rs397517203
NM_006393.3(NEBL):c.1449+14G>A rs373699154
NM_006393.3(NEBL):c.153+15T>G rs397517204
NM_006393.3(NEBL):c.154-11C>A rs41277376
NM_006393.3(NEBL):c.1728T>C (p.Asp576=) rs1528182
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu) rs146275785
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn) rs41277374
NM_006393.3(NEBL):c.191A>G (p.Lys64Arg) rs71578975
NM_006393.3(NEBL):c.1962+7A>G rs371630900
NM_006393.3(NEBL):c.1963-13C>T rs727504904
NM_006393.3(NEBL):c.2148+4T>C rs193163659
NM_006393.3(NEBL):c.2346+6G>A rs201822024
NM_006393.3(NEBL):c.2820C>T (p.His940=) rs532565487
NM_006393.3(NEBL):c.480+3A>G rs71578983
NM_006393.3(NEBL):c.561G>C (p.Gln187His) rs75301590
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu) rs143644290
NM_006393.3(NEBL):c.82-4A>G rs368268112
NM_213569.2(NEBL):c.357T>C (p.Asn119=) rs115708584

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