Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001425285 | SCV001627911 | likely benign | Pitt-Hopkins-like syndrome 2 | 2022-09-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000977695 | SCV002567698 | uncertain significance | not provided | 2022-08-17 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |