ClinVar Genomic variation as it relates to human health
NM_018907.4(PCDHA4):c.2385+59713A>C
Germline
Classification
(1)
Likely benign
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 |
- | 90 |
PCDHA1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 1023 | |
PCDHA10 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 414 | |
PCDHA11 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 335 | |
PCDHA2 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 962 | |
PCDHA3 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 899 | |
PCDHA4 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 828 | |
PCDHA5 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 784 | |
PCDHA6 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 723 | |
PCDHA7 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 652 |
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 |
---|---|---|---|---|
Likely benign (1) |
|
Mar 1, 2023 | RCV003429809.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 15, 2024