Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Donald Williams Parsons Laboratory, |
RCV000505645 | SCV000599965 | pathogenic | Lynch syndrome 1 | 2013-01-24 | 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 maternally inherited in a 13-year-old female with glioblastoma and family history of colorectal, uterine, pancreatic, and breast cancers. |