ClinVar Genomic variation as it relates to human health
NM_018902.5(PCDHA11):c.1781G>T (p.Arg594Leu)
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
LOC112267934 | - | - | - |
GRCh38 GRCh38 |
- | 100 |
PCDHA1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 1149 | |
PCDHA10 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 466 | |
PCDHA11 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 378 | |
PCDHA2 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 1083 | |
PCDHA3 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 1012 | |
PCDHA4 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 934 | |
PCDHA5 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 880 | |
PCDHA6 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 814 | |
PCDHA7 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 736 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 12, 2024 | RCV004505186.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024