Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pediatrics, |
RCV001093609 | SCV001245533 | 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 loss of nuclear localization compared to wildtype SOX10. multiple in silico prediction (SIFT, Polyphen-2, Mutpred), segregation studies, absence from controls, and functional evidence. |