Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000545352 | SCV000656480 | likely benign | Developmental and epileptic encephalopathy, 31 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000545352 | SCV002801233 | likely benign | Developmental and epileptic encephalopathy, 31 | 2022-05-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003320688 | SCV004025565 | uncertain significance | not provided | 2023-08-11 | criteria provided, single submitter | clinical testing | 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 |