ClinVar Miner

Variants with conflicting interpretations studied for Angelman syndrome

Coded as:
Minimum review status of the submission for Angelman syndrome: Y axis collection method of the submission for Angelman syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
258 22 0 2 8 0 1 11

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.

All conditions
Angelman syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 1 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 1 0 0 1 7
likely benign 0 0 1 0 0
benign 0 0 7 0 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Angelman syndrome 258 22 0 2 8 0 1 11

All variants with conflicting interpretations #

Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000462.5(UBE3A):c.2133+9T>C rs79328837
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) rs150331504
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu) rs587781239
NM_130839.5(UBE3A):c.373T>C (p.Leu125=) rs61734190
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys) rs587781241
NM_130839.5(UBE3A):c.477A>T (p.Ala159=) rs28528079
NM_130839.5(UBE3A):c.618A>T (p.Ala206=) rs143484751
NM_130839.5(UBE3A):c.770T>C (p.Leu257Pro) rs587780582

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