ClinVar Genomic variation as it relates to human health
NM_001182.5(ALDH7A1):c.951A>G (p.Ser317=)
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 | |||
ALDH7A1 | - | - |
GRCh38 GRCh37 |
1074 | 1117 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Oct 9, 2018 | RCV002374201.2 | |
Likely benign (1) |
|
Feb 2, 2023 | RCV003631253.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024