ClinVar Miner

Variants in gene NOTCH2 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 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
292 36 3 5 6 0 2 16

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 3 1 2 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 2 0 0 6 0
likely benign 0 0 6 0 4
benign 0 0 0 4 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr) rs111033632
NM_024408.4(NOTCH2):c.1567+8C>T rs372367275
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=) rs782101275
NM_024408.4(NOTCH2):c.3205C>A (p.Arg1069=) rs61752485
NM_024408.4(NOTCH2):c.3441G>A (p.Glu1147=) rs371875533
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282
NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=) rs367699419
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile) rs116321057
NM_024408.4(NOTCH2):c.5857C>T (p.Arg1953Cys) rs312262796
NM_024408.4(NOTCH2):c.5858G>A (p.Arg1953His) rs312262797
NM_024408.4(NOTCH2):c.5930-1G>A rs312262798
NM_024408.4(NOTCH2):c.6007C>T (p.Arg2003Ter) rs312262801
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn) rs143236410
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter) rs1553193507
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704

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