ClinVar Genomic variation as it relates to human health
NM_032803.6(SLC7A3):c.1798C>T (p.Arg600Cys)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
criteria provided, conflicting classifications
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 | |||
SLC7A3 | - | - |
GRCh38 GRCh37 |
32 | 156 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
SLC7A3-related disorder
|
Likely benign (1) |
|
May 7, 2019 | RCV003918980.1 |
Uncertain significance (1) |
|
Jul 8, 2022 | RCV004203712.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024