ClinVar Genomic variation as it relates to human health
NM_020442.6(VARS2):c.2261G>A (p.Arg754His)
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 | |||
LOC126859646 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 |
- | 86 |
VARS2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
404 | 501 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 19, 2022 | RCV002781497.3 | |
Uncertain significance (1) |
|
Jun 17, 2022 | RCV002781498.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024