ClinVar Genomic variation as it relates to human health
NM_018714.3(COG1):c.1139C>T (p.Ala380Val)
Germline
Classification
(2)
Uncertain significance
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 | |||
COG1 | - | - |
GRCh38 GRCh37 |
295 | 452 | |
LOC126862634 | - | - | - | GRCh38 | - | 58 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 22, 2022 | RCV003002584.2 | |
Uncertain significance (1) |
|
May 25, 2022 | RCV003002583.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024