ClinVar Genomic variation as it relates to human health
NM_016252.4(BIRC6):c.5454C>T (p.Asp1818=)
Germline
Classification
(1)
Likely 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 | |||
BIRC6 | - | - |
GRCh38 GRCh37 |
289 | 340 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
BIRC6-related disorder
|
Likely benign (1) |
|
Jan 7, 2020 | RCV003942271.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024