Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000233982 | SCV000290307 | benign | Adams-Oliver syndrome 5 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003126646 | SCV003803575 | uncertain significance | not provided | 2023-02-08 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function |