ClinVar Genomic variation as it relates to human health
NM_001385079.1(PDE10A):c.2438T>A (p.Leu813His)
Germline
Classification
(2)
Uncertain significance
criteria provided, multiple submitters, no conflicts
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 | |||
PDE10A | - | - |
GRCh38 GRCh37 |
210 | 261 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 4, 2023 | RCV002591123.2 | |
Uncertain significance (1) |
|
Nov 29, 2023 | RCV004065739.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024