Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MGZ Medical Genetics Center | RCV002289077 | SCV002581504 | pathogenic | Cataract 18 | 2022-03-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004812441 | SCV005437972 | pathogenic | not provided | 2024-06-10 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 36274208) |