Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000462833 | SCV000564001 | pathogenic | Retinoblastoma | 2016-11-28 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 3-4 of the RB1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in RB1 are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with bilateral Retinoblastoma (PMID: 20090211). For these reasons, this variant has been classified as Pathogenic. |