Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV004027352 | SCV004932599 | pathogenic | Li-Fraumeni syndrome 1 | 2024-02-20 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
German Consortium for Hereditary Breast and Ovarian Cancer, |
RCV000785518 | SCV000924090 | pathogenic | Ovarian neoplasm | 2018-12-01 | no assertion criteria provided | research |