ClinVar Genomic variation as it relates to human health
NM_001346810.2(DLGAP2):c.1231-10C>G
Germline
Classification
(1)
Likely benign
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 | |||
DLGAP2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
99 | 275 | |
DLGAP2-AS1 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 64 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
DLGAP2-related disorder
|
Likely benign (1) |
|
Jul 10, 2019 | RCV003954375.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024