Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001488871 | SCV001693397 | likely benign | Pitt-Hopkins-like syndrome 2 | 2022-08-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000896949 | SCV001786196 | uncertain significance | not provided | 2021-10-19 | criteria provided, single submitter | clinical testing | In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |