Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Molecular Genetics |
RCV001171610 | SCV001334408 | pathogenic | not provided | 2019-10-15 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV002267631 | SCV002549854 | likely pathogenic | Mowat-Wilson syndrome | 2022-07-06 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PVS1_STR, PS4_SUP, PM2_SUP |