ClinVar Genomic variation as it relates to human health
NM_012098.3(ANGPTL2):c.101C>T (p.Ser34Leu)
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 | |||
ANGPTL2 | - | - |
GRCh38 GRCh37 |
- | 65 | |
RALGPS1 | - | - |
GRCh38 GRCh37 |
21 | 87 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 16, 2023 | RCV004412894.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024