ClinVar Genomic variation as it relates to human health
NM_002555.6(SLC22A18):c.610G>A (p.Ala204Thr)
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 | |||
SLC22A18 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
54 | 89 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
SLC22A18-related disorder
|
Likely benign (1) |
|
Aug 29, 2022 | RCV003944503.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024