Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pediatrics, |
RCV001170070 | SCV001245534 | pathogenic | PCWH syndrome | 2020-05-02 | no assertion criteria provided | research | 1. de novo occurrence. 2. supporting evidences from functional studies: reporter assay confirmed sever disruption of MITF transcription activation activity ; subcellular localization study indicated deceased nuclear localization compared to wildtype SOX10. |