ClinVar Genomic variation as it relates to human health
NM_004309.6(ARHGDIA):c.275-62G>C
Germline
Classification
(1)
Likely benign
no assertion criteria provided
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 | |||
ARHGDIA | - | - |
GRCh38 GRCh37 |
33 | 83 | |
LOC130061973 | - | - | - | GRCh38 | - | 23 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
ARHGDIA-related disorder
|
Likely benign (1) |
|
Jun 1, 2023 | RCV003921808.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024