ClinVar Genomic variation as it relates to human health
NM_006940.6(SOX5):c.1165-8709T>C
Germline
Classification
(2)
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 | |||
SOX5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
226 | 276 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Aug 1, 2023 | RCV003326853.8 | |
SOX5-related disorder
|
Benign (1) |
|
Aug 8, 2019 | RCV003906696.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 15, 2024