ClinVar Genomic variation as it relates to human health
NM_001211.6(BUB1B):c.2156A>T (p.Gln719Leu)
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 | |||
BUB1B | - | - |
GRCh38 GRCh37 |
1477 | 1746 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 28, 2022 | RCV003113339.4 | |
Uncertain significance (1) |
|
Jul 3, 2023 | RCV003341538.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024