ClinVar Genomic variation as it relates to human health
NM_001493.3(GDI1):c.723G>C (p.Leu241Phe)
Germline
Classification
(1)
Uncertain significance
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 | |||
GDI1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
92 | 316 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
GDI1-related disorder
|
Uncertain significance (1) |
|
Aug 24, 2023 | RCV003404547.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024