ClinVar Miner

Variants in gene ASXL3 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
159 5 0 10 1 0 3 13

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 8 2 0 0
likely pathogenic 8 0 1 0 0
uncertain significance 2 1 0 0 1
likely benign 0 0 0 0 2
benign 0 0 1 2 0

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
NM_030632.3(ASXL3):c.1409A>C (p.His470Pro) rs80040227
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter) rs1060499602
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs) rs1599563995
NM_030632.3(ASXL3):c.2457T>C (p.Ala819=) rs199974440
NM_030632.3(ASXL3):c.2965C>G (p.Arg989Gly) rs190659120
NM_030632.3(ASXL3):c.3039+1G>A rs1555743003
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter) rs868044680
NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter) rs377619533
NM_030632.3(ASXL3):c.4219_4220del (p.Leu1407fs) rs1555744178
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_030632.3(ASXL3):c.4462_4465del (p.Thr1488fs) rs1599574018
NM_030632.3(ASXL3):c.6110del (p.Pro2037fs) rs747712363

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