ClinVar Genomic variation as it relates to human health
NM_001113491.2(SEPTIN9):c.162C>G (p.Ala54=)
Germline
Classification
(2)
Likely benign
criteria provided, single submitter
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 | |||
SEPTIN9 | - | - |
GRCh38 GRCh38 GRCh37 |
632 | 669 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
SEPTIN9-related disorder
|
Likely benign (1) |
|
Aug 15, 2019 | RCV003969221.2 |
Likely benign (1) |
|
- | RCV004703358.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024