ClinVar Genomic variation as it relates to human health
NM_000062.3(SERPING1):c.165C>T (p.Phe55=)
Germline
Classification
(3)
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 | |||
SERPING1 | - | - |
GRCh38 GRCh37 |
561 | 577 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 15, 2020 | RCV002403797.2 | |
Likely benign (1) |
|
Dec 7, 2021 | RCV003097074.2 | |
SERPING1-related disorder
|
Likely benign (1) |
|
Sep 29, 2020 | RCV003896174.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024