Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001410389 | SCV001612435 | likely benign | Mowat-Wilson syndrome | 2023-05-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000642260 | SCV001998736 | uncertain significance | not provided | 2020-02-04 | 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 |
Genome- |
RCV001410389 | SCV002045596 | likely benign | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing |