ClinVar Miner

Variants in gene PSAP with conflicting interpretations

See also:
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
305 14 0 7 12 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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 8 4
likely benign 0 0 8 0 6
benign 0 0 4 6 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
NM_002778.4(PSAP):c.1006-21C>T rs56214505
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594
NM_002778.4(PSAP):c.1146C>T (p.Cys382=) rs573095617
NM_002778.4(PSAP):c.1197C>T (p.His399=)
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) rs777227555
NM_002778.4(PSAP):c.1281C>T (p.Ser427=) rs529776324
NM_002778.4(PSAP):c.1380C>T (p.Pro460=) rs1049882
NM_002778.4(PSAP):c.1432-4A>G rs775086571
NM_002778.4(PSAP):c.1476T>C (p.Thr492=) rs139178900
NM_002778.4(PSAP):c.174+9C>T rs141133813
NM_002778.4(PSAP):c.189C>T (p.Cys63=) rs111369573
NM_002778.4(PSAP):c.204C>T (p.Asp68=) rs143981174
NM_002778.4(PSAP):c.336C>T (p.Ser112=) rs370977178
NM_002778.4(PSAP):c.423C>T (p.Leu141=)
NM_002778.4(PSAP):c.577-10T>C rs185892516
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile) rs121918103
NM_002778.4(PSAP):c.714C>G (p.Ala238=) rs141199649
NM_002778.4(PSAP):c.798G>A (p.Ala266=) rs199672678
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser) rs144942998

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