ClinVar Genomic variation as it relates to human health
NM_001123385.2(BCOR):c.1779C>T (p.Ser593=)
Germline
Classification
(1)
Likely benign
no assertion criteria provided
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 | |||
BCOR | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
503 | 801 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
BCOR-related disorder
|
Likely benign (1) |
|
Mar 10, 2019 | RCV004552778.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 25, 2024