Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001953627 | SCV002242964 | pathogenic | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Cys105*) in the CRB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CRB2 are known to be pathogenic (PMID: 27942854, 30212996). This variant is present in population databases (rs149815227, ExAC 0.002%). This variant has not been reported in the literature in individuals with CRB2-related conditions. |
Fulgent Genetics, |
RCV002484802 | SCV002790157 | likely pathogenic | Ventriculomegaly-cystic kidney disease; Focal segmental glomerulosclerosis 9 | 2022-03-04 | criteria provided, single submitter | clinical testing |