Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001082325 | SCV000287636 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000561484 | SCV000671031 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-28 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000231952 | SCV001134664 | benign | not provided | 2019-03-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000231952 | SCV002498498 | likely benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000561484 | SCV002534684 | likely benign | Hereditary cancer-predisposing syndrome | 2021-04-30 | criteria provided, single submitter | curation |