Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001039619 | SCV001203156 | benign | Kleefstra syndrome 1 | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003332286 | SCV004039613 | uncertain significance | not provided | 2023-10-02 | 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 |