Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000179572 | SCV000231837 | pathogenic | not provided | 2014-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000792250 | SCV000931531 | pathogenic | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2018-12-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg526*) in the CRB1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs114342808, ExAC 0.03%). This variant has been observed in several individuals affected with CRB1-related conditions (PMID: 23462753, 28512305, 18682808). ClinVar contains an entry for this variant (Variation ID: 143167). Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001073589 | SCV001239140 | pathogenic | Retinal dystrophy | 2019-07-06 | criteria provided, single submitter | clinical testing | |
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000132698 | SCV000172651 | pathogenic | Leber congenital amaurosis 8 | no assertion criteria provided | not provided | Converted during submission to Pathogenic. | |
Molecular Diagnostics Laboratory, |
RCV000132698 | SCV000189601 | pathogenic | Leber congenital amaurosis 8 | 2014-09-18 | no assertion criteria provided | clinical testing | |
Sharon lab, |
RCV001002990 | SCV001161044 | pathogenic | Leber congenital amaurosis | 2019-06-23 | no assertion criteria provided | research |