ClinVar Genomic variation as it relates to human health
NM_000712.4(BLVRA):c.609G>A (p.Val203=)
Germline
Classification
(2)
Benign
criteria provided, single submitter
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 | |||
BLVRA | - | - |
GRCh38 GRCh37 |
49 | 75 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jan 26, 2024 | RCV002796022.3 | |
BLVRA-related disorder
|
Benign (1) |
|
Oct 23, 2019 | RCV003973491.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024