Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000869579 | SCV001011017 | benign | Bloom syndrome | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363252 | SCV002624883 | likely benign | Hereditary cancer-predisposing syndrome | 2022-06-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Natera, |
RCV000869579 | SCV002090622 | likely benign | Bloom syndrome | 2020-09-01 | no assertion criteria provided | clinical testing | |
Department of Thoracic Surgery and State Key Laboratory of Genetic Engineering, |
RCV003483746 | SCV004228488 | drug response | Olaparib response | 2023-11-01 | no assertion criteria provided | research | Germline variants of Holliday junction resolvase genes in multiple primary malignancies involving lung cancer lead to Olaparib sensitization. |