Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471858 | SCV000553797 | pathogenic | Bardet-Biedl syndrome | 2022-08-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 412298). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu213*) in the BBS4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS4 are known to be pathogenic (PMID: 11381270, 12016587, 20177705, 27894351). |
Baylor Genetics | RCV003463973 | SCV004214110 | likely pathogenic | Bardet-Biedl syndrome 4 | 2023-01-19 | criteria provided, single submitter | clinical testing |