Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001843875 | SCV002103068 | uncertain significance | Cornelia de Lange syndrome 1 | 2021-08-09 | criteria provided, single submitter | clinical testing | PS1, PP2, PP5, BS2 |