ClinVar Genomic variation as it relates to human health
NM_033028.5(BBS4):c.443T>A (p.Leu148Gln)
Germline
Classification
(3)
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 | |||
BBS4 | - | - |
GRCh38 GRCh37 |
791 | 832 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 19, 2024 | RCV003069640.3 | |
Uncertain significance (1) |
|
Dec 11, 2023 | RCV004071859.1 | |
BBS4-related disorder
|
Uncertain significance (1) |
|
May 8, 2024 | RCV004750264.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024