ClinVar Genomic variation as it relates to human health
NM_001040431.3(COA3):c.265G>A (p.Glu89Lys)
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 | |||
COA3 | - | - |
GRCh38 GRCh37 |
22 | 31 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 24, 2021 | RCV002994409.2 | |
COA3-related disorder
|
Likely benign (1) |
|
Jan 13, 2020 | RCV003943702.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024