ClinVar Genomic variation as it relates to human health
NM_139319.3(SLC17A8):c.223C>T (p.Arg75Cys)
Germline
Classification
(3)
Uncertain significance
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 | |||
SLC17A8 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
284 | 296 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (2) |
|
Oct 9, 2023 | RCV003234257.3 | |
Pathogenic (1) |
|
Mar 2, 2020 | RCV003984870.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024