Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV005244144 | SCV005889620 | likely pathogenic | Mowat-Wilson syndrome | 2024-07-02 | criteria provided, single submitter | clinical testing | This individual has been published in PMID: 39484203. |