ClinVar Genomic variation as it relates to human health
NM_012434.5(SLC17A5):c.24G>A (p.Leu8=)
Germline
Classification
(1)
Likely benign
criteria provided, single submitter
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 | |||
LOC129996727 | - | - | - | GRCh38 | - | 55 |
SLC17A5 | - | - |
GRCh38 GRCh37 |
553 | 650 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Oct 18, 2023 | RCV003505654.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024