Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001448730 | SCV001651829 | likely benign | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001751768 | SCV001987484 | uncertain significance | not provided | 2021-03-05 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28421333) |