Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003329350 | SCV004036762 | pathogenic | not provided | 2023-03-24 | 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: 31578471) |
Institute for Human Genetics, |
RCV000857290 | SCV000999882 | pathogenic | Lamb-Shaffer syndrome | 2019-08-05 | no assertion criteria provided | clinical testing |