ClinVar Miner

Variants with conflicting interpretations studied for PCDH15-related condition

Minimum review status of the submission for PCDH15-related condition: Collection method of the submission for PCDH15-related condition:
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
8 16 0 22 13 0 0 30

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
PCDH15-related condition uncertain significance likely benign benign
uncertain significance 0 2 0
likely benign 11 0 14
benign 0 8 0

Condition to condition summary #

Total conditions: 3
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
not provided 0 24 0 12 10 0 0 21
not specified 0 17 0 14 3 0 0 16
Nonsyndromic Hearing Loss, Recessive 0 0 0 0 2 0 0 2

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.4671+1053A>C rs149208928 0.00562
NM_001384140.1(PCDH15):c.4671+1438A>C rs16937768 0.00449
NM_001384140.1(PCDH15):c.3502-8C>T rs184144118 0.00411
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983 0.00224
NM_001384140.1(PCDH15):c.1181A>G (p.Tyr394Cys) rs148533341 0.00219
NM_001384140.1(PCDH15):c.343G>A (p.Val115Met) rs143570915 0.00209
NM_001384140.1(PCDH15):c.4671+1109C>T rs145418788 0.00208
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser) rs181306086 0.00140
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=) rs200155519 0.00138
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738 0.00121
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_001384140.1(PCDH15):c.4671+1046A>G rs201855435 0.00049
NM_001384140.1(PCDH15):c.4803C>T (p.Gly1601=) rs190105984 0.00032
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555 0.00020
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636 0.00013
NM_001384140.1(PCDH15):c.92-10C>T rs202223952 0.00008
NM_001384140.1(PCDH15):c.3807-6T>G rs727504791 0.00006
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=) rs529962978 0.00001
NM_033056.4(PCDH15):c.5805G>T (p.Gly1935=) rs727504069 0.00001
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.465A>G (p.Thr155=) rs559193058
NM_001384140.1(PCDH15):c.4671+1345G>C rs531574437
NM_001384140.1(PCDH15):c.4672-8_4672-4del rs528346155
NM_033056.3(PCDH15):c.4368-13_4368-10dup rs530804327
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs) rs568470164

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