Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Donald Williams Parsons Laboratory, |
RCV000505610 | SCV000599913 | pathogenic | Wilms tumor 1 | 2013-03-23 | no assertion criteria provided | research | This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in this study as a mosaic finding in an 11-month-old male with Wilms tumor. |