ClinVar Genomic variation as it relates to human health
NM_018909.4(PCDHA6):c.849C>G (p.Ser283Arg)
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 | |||
PCDHA1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 1023 | |
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 | |
PCDHA@ | - | - |
GRCh38 GRCh38 GRCh37 |
- | 1023 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 17, 2023 | RCV004505331.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024