Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253303 | SCV001428953 | uncertain significance | Intellectual disability, autosomal dominant 20 | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV001253303 | SCV002517606 | pathogenic | Intellectual disability, autosomal dominant 20 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003153962 | SCV003842730 | pathogenic | not provided | 2022-09-15 | 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: 33831796) |