Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001796031 | SCV002032829 | uncertain significance | not provided | 2023-05-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign germline variant to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32629801, 26331834, 31604779, 20929327, 27904446, 30577887) |