ClinVar Genomic variation as it relates to human health
NM_004183.4(BEST1):c.932T>G (p.Val311Gly)
Germline
Classification
(1)
Pathogenic
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 | |||
BEST1 | - | - |
GRCh38 GRCh37 |
823 | 892 | |
FTH1 | - | - |
GRCh38 GRCh37 |
- | 88 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 20, 2022 | RCV002468901.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 18, 2024