ClinVar Genomic variation as it relates to human health
NM_014495.4(ANGPTL3):c.1089T>G (p.Val363=)
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 | |||
ANGPTL3 | - | - |
GRCh38 GRCh37 |
- | 118 | |
DOCK7 | - | - |
GRCh38 GRCh37 |
1568 | 1710 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Oct 20, 2023 | RCV003555450.1 | |
ANGPTL3-related disorder
|
Likely benign (1) |
|
Jun 21, 2019 | RCV003939114.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024