ClinVar Genomic variation as it relates to human health
NM_016953.4(PDE11A):c.1738-10T>G
Germline
Classification
(2)
Likely benign
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 | |||
PDE11A | - | - |
GRCh38 GRCh37 |
144 | 218 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
PDE11A-related disorder
|
Likely benign (1) |
|
Oct 8, 2020 | RCV003964767.1 |
Likely benign (1) |
|
Apr 4, 2024 | RCV003992823.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024