Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foulkes Cancer Genetics LDI, |
RCV001201068 | SCV001372077 | pathogenic | DICER1-related tumor predisposition | 2019-07-01 | criteria provided, single submitter | curation | ACMG criteria met: PVS1, PM2, PP3 |
Center for Genomic Medicine, |
RCV004761971 | SCV005374395 | pathogenic | Pleuropulmonary blastoma | 2024-09-22 | criteria provided, single submitter | clinical testing |