Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Donald Williams Parsons Laboratory, |
RCV000505606 | SCV000599927 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2013-05-18 | 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 paternally inherited in a 1-year-old male with Ewing sarcoma, short stature, thrombocytopenia, mild anemia, and paternal family history of breast and ovarian cancer diagnosed in 60s. |