ClinVar Genomic variation as it relates to human health
NM_022041.4(GAN):c.1428C>T (p.Val476=)
Germline
Classification
(2)
Likely 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 | |||
GAN | - | - |
GRCh38 GRCh37 |
709 | 838 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 7, 2023 | RCV003108300.4 | |
GAN-related disorder
|
Likely benign (1) |
|
Mar 11, 2019 | RCV003946417.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024