ClinVar Genomic variation as it relates to human health
NM_017807.4(OSGEP):c.291C>A (p.Ala97=)
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 | |||
LOC107372315 | - | - | - |
GRCh38 GRCh38 |
1 | 66 |
OSGEP | - | - |
GRCh38 GRCh38 GRCh37 |
88 | 168 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (2) |
|
Feb 1, 2024 | RCV003737816.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024