ClinVar Miner

Variants in gene PRKN with conflicting interpretations

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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
232 8 0 9 6 1 4 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 association
pathogenic 0 4 4 1 2 1
likely pathogenic 4 0 2 1 1 1
uncertain significance 3 1 0 3 3 0
likely benign 0 0 3 0 5 0
benign 1 0 3 5 0 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_004562.3(PRKN):c.1096C>T (p.Arg366Trp) rs56092260
NM_004562.3(PRKN):c.111G>A (p.Pro37=) rs77795533
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu) rs1801582
NM_004562.3(PRKN):c.1204C>T (p.Arg402Cys) rs55830907
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu) rs149953814
NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter) rs137853056
NM_004562.3(PRKN):c.167T>A (p.Val56Glu) rs137853059
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) rs55774500
NM_004562.3(PRKN):c.48G>A (p.Glu16=) rs143477190
NM_004562.3(PRKN):c.500G>A (p.Ser167Asn) rs1801474
NM_004562.3(PRKN):c.522C>T (p.Leu174=) rs147121590
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_004562.3(PRKN):c.783A>G (p.Leu261=) rs9456711
NM_004562.3(PRKN):c.919C>T (p.Leu307=) rs138920699
Single allele

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