ClinVar Genomic variation as it relates to human health
NM_003055.3(SLC18A3):c.1164C>T (p.Cys388=)
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 | |||
CHAT | - | - |
GRCh38 GRCh37 |
950 | 1283 | |
SLC18A3 | - | - |
GRCh38 GRCh37 |
- | 333 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Apr 12, 2023 | RCV002606645.9 | |
Likely benign (1) |
|
Dec 3, 2019 | RCV003946308.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024