Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000759207 | SCV000523534 | likely benign | not provided | 2020-12-03 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016) |
Invitae | RCV001085963 | SCV000558734 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000574917 | SCV000671065 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-05 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759207 | SCV000888424 | likely benign | not provided | 2018-01-15 | criteria provided, single submitter | clinical testing |