Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001228468 | SCV001400868 | pathogenic | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2020-09-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521). This variant has not been reported in the literature in individuals with CRB1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln461*) in the CRB1 gene. It is expected to result in an absent or disrupted protein product. |
Revvity Omics, |
RCV001780159 | SCV002019729 | likely pathogenic | not provided | 2023-02-09 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449718 | SCV004179911 | pathogenic | Leber congenital amaurosis 8 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449717 | SCV004179912 | pathogenic | Retinitis pigmentosa 12 | 2023-04-11 | criteria provided, single submitter | clinical testing |