ClinVar Genomic variation as it relates to human health
NM_033409.4(SLC52A3):c.600C>T (p.Pro200=)
Germline
Classification
(6)
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 | |||
SLC52A3 | - | - |
GRCh38 GRCh37 |
443 | 507 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (2) |
|
Aug 23, 2017 | RCV000245038.9 | |
Benign (1) |
|
Jan 30, 2024 | RCV000541843.9 | |
Benign (2) |
|
Aug 12, 2018 | RCV001689926.2 | |
Benign (1) |
|
Jul 30, 2021 | RCV002494770.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs16992990 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Sep 29, 2024