Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001545808 | SCV001765210 | uncertain significance | not provided | 2021-02-03 | criteria provided, single submitter | clinical testing | Observed in an individual with spontaneous coronary artery dissection (Antonutti et al., 2020); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33190788) |
Invitae | RCV003586297 | SCV004277549 | benign | Adams-Oliver syndrome 5 | 2024-01-13 | criteria provided, single submitter | clinical testing |