Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001780935 | SCV002024086 | likely pathogenic | not provided | 2021-06-24 | criteria provided, single submitter | clinical testing | |
Tumer Group, |
RCV003163924 | SCV003915498 | pathogenic | Intellectual developmental disorder 62 | 2023-02-28 | criteria provided, single submitter | research | |
Institute of Human Genetics, |
RCV003163924 | SCV004100764 | pathogenic | Intellectual developmental disorder 62 | 2023-10-09 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1,PS2_MOD,PS4,PM2_SUP |
Gene |
RCV001780935 | SCV005439349 | pathogenic | not provided | 2024-06-10 | 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); This variant is associated with the following publications: (PMID: 35982160, 33004838, 38135915) |