Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003320744 | SCV004025675 | pathogenic | not provided | 2023-02-08 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Identified in patients with clinical features consistent with an FRAS1-related disorder referred for genetic testing at GeneDx and in published literature (Boussion et al., 2020); This variant is associated with the following publications: (PMID: 31923588) |
Centre de Biologie Pathologie Génétique, |
RCV000782142 | SCV000920595 | pathogenic | Fraser syndrome 1 | no assertion criteria provided | clinical testing |