ClinVar Genomic variation as it relates to human health
NM_176824.3(BBS7):c.1306-1_1308del
Germline
Classification
(3)
Pathogenic/Likely pathogenic
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 | |||
BBS7 | - | - |
GRCh38 GRCh37 |
672 | 712 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 17, 2023 | RCV002952531.2 | |
Pathogenic (1) |
|
Aug 26, 2023 | RCV003464640.1 | |
Likely pathogenic (1) |
|
Oct 24, 2023 | RCV003906353.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024