Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center For Human Genetics And Laboratory Diagnostics, |
RCV003315175 | SCV004014798 | likely pathogenic | Waardenburg syndrome type 2E | 2023-04-21 | criteria provided, single submitter | clinical testing |