Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519145 | SCV000619173 | uncertain significance | not provided | 2021-12-10 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This substitution is predicted to be within the C-terminal cytoplasmic domain |
Invitae | RCV001497480 | SCV001702209 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2022-10-21 | criteria provided, single submitter | clinical testing |