Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002519763 | SCV002980659 | pathogenic | Bardet-Biedl syndrome | 2022-07-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser571*) in the BBS7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS7 are known to be pathogenic (PMID: 12567324, 19402160, 21209035, 31196119). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This premature translational stop signal has been observed in individual(s) with clinical features of BBS7-related conditions (PMID: 27208204). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003463625 | SCV004214149 | pathogenic | Bardet-Biedl syndrome 7 | 2023-08-21 | criteria provided, single submitter | clinical testing | |
Centre for Genomic Medicine, |
RCV000225449 | SCV000282558 | likely pathogenic | Retinal dystrophy | no assertion criteria provided | clinical testing |