ClinVar Genomic variation as it relates to human health
NM_018933.4(PCDHB13):c.1748G>T (p.Gly583Val)
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 | |||
PCDHB13 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 83 | |
PCDHB@ | - | - |
GRCh38 GRCh38 GRCh37 |
- | 1172 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 14, 2023 | RCV004349898.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 27, 2024