Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Prof. |
RCV001004797 | SCV001164285 | pathogenic | Waardenburg syndrome type 2A | 2018-05-07 | criteria provided, single submitter | research | Dominant, congenital, severe HL and albinism |