Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV000660655 | SCV000782784 | uncertain significance | not provided | 2018-02-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000660655 | SCV005388692 | pathogenic | not provided | 2024-04-29 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25617745, 33227818, 30615206, 35181986, 35395208) |