ClinVar Genomic variation as it relates to human health
NM_014588.6(VSX1):c.139G>A (p.Ala47Thr)
Germline
Classification
(2)
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 | |||
VSX1 | - | - |
GRCh38 GRCh37 |
118 | 145 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
VSX1-related disorder
|
Uncertain significance (1) |
|
Sep 21, 2022 | RCV003396976.4 |
Uncertain significance (1) |
|
May 2, 2023 | RCV003248560.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024