ClinVar Genomic variation as it relates to human health
NM_014251.3(SLC25A13):c.1800C>A (p.Tyr600Ter)
Germline
Classification
(1)
Pathogenic
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 | |||
SLC25A13 | - | - |
GRCh38 GRCh37 |
835 | 881 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 22, 2024 | RCV003466394.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024