Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001052034 | SCV001216224 | pathogenic | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2020-03-31 | 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 been observed in individual(s) with retinitis pigmentosa (PMID: Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser379*) in the CRB1 gene. It is expected to result in an absent or disrupted protein product. |
Baylor Genetics | RCV003473646 | SCV004211195 | likely pathogenic | Leber congenital amaurosis 8 | 2023-05-17 | criteria provided, single submitter | clinical testing |