ClinVar Genomic variation as it relates to human health
NM_001278512.2(AP3B2):c.2105G>C (p.Gly702Ala)
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 | |||
AP3B2 | - | - |
GRCh38 GRCh37 |
13 | 809 | |
CPEB1-AS1 | - | - | - | GRCh38 | - | 747 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 30, 2023 | RCV003287850.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024