ClinVar Genomic variation as it relates to human health
NM_178859.4(SLC51B):c.199A>G (p.Met67Val)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(2); Likely benign(1)
Uncertain significance(2); 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 | |||
RASL12 | - | - | - |
GRCh38 GRCh37 |
8 | 92 |
SLC51B | - | - |
GRCh38 GRCh37 |
- | 84 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 19, 2023 | RCV002949695.2 | |
Likely benign (1) |
|
May 10, 2022 | RCV003916684.1 | |
Uncertain significance (1) |
|
Oct 12, 2022 | RCV004068323.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024