Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001257239 | SCV001433768 | benign | Adams-Oliver syndrome 5 | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003318676 | SCV004022765 | uncertain significance | not provided | 2023-07-31 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |