ClinVar Genomic variation as it relates to human health
NM_018446.4(GLT8D1):c.166C>A (p.Arg56=)
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 | |||
GLT8D1 | - | - |
GRCh38 GRCh37 |
20 | 31 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 1, 2023 | RCV003437875.5 | |
GLT8D1-related disorder
|
Likely benign (1) |
|
Feb 10, 2022 | RCV003908941.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024