Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000693421 | SCV000821289 | pathogenic | Retinoblastoma | 2018-10-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365). This variant has been observed to be de novo in an individual affected with retinoblastoma (PMID: 28193182). This variant is also known as g.156797C>T in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln689*) in the RB1 gene. It is expected to result in an absent or disrupted protein product. |
Genetic Diagnostic Laboratory, |
RCV000693421 | SCV005046257 | pathogenic | Retinoblastoma | 2024-05-20 | criteria provided, single submitter | clinical testing | Case and Pedigree Information: BILATERAL CASES:1, UNILATERAL CASES:0, TOTAL CASES:1, PEDIGREES:1. ACMG Codes Applied:PVS1, PM2 |