Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760476 | SCV000890365 | pathogenic | not provided | 2018-07-16 | criteria provided, single submitter | clinical testing | The R497X variant in the OPHN1 gene has been reported previously in multiple individuals with OPHN1-related disorders (Grozeva et al., 2015; Tzschach et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R497X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R497X as a pathogenic variant. |
Baylor Genetics | RCV003147543 | SCV003835868 | pathogenic | X-linked intellectual disability-cerebellar hypoplasia syndrome | 2022-12-15 | criteria provided, single submitter | clinical testing |