Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003474690 | SCV004211164 | pathogenic | Leber congenital amaurosis 8 | 2023-08-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003764799 | SCV004569682 | pathogenic | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser403*) in the CRB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with CRB1-related conditions (PMID: 10508521, 29145603). ClinVar contains an entry for this variant (Variation ID: 99867). For these reasons, this variant has been classified as Pathogenic. |
Retina International | RCV000086305 | SCV000118451 | not provided | not provided | no assertion provided | not provided |