Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525980 | SCV000633762 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2017-09-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003148779 | SCV003837326 | uncertain significance | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |