ClinVar Genomic variation as it relates to human health
NM_000185.4(SERPIND1):c.286G>A (p.Val96Ile)
Germline
Classification
(1)
Likely benign
no assertion criteria provided
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 | |||
PI4KA | - | - |
GRCh38 GRCh37 |
306 | 788 | |
SERPIND1 | - | - |
GRCh38 GRCh37 |
- | 470 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
SERPIND1-related disorder
|
Likely benign (1) |
|
Jul 12, 2019 | RCV003959175.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024