Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001026579 | SCV001188989 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-16 | 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. |
Invitae | RCV002551971 | SCV001650017 | likely benign | Familial adenomatous polyposis 1 | 2023-11-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001712849 | SCV001942342 | likely benign | not provided | 2019-01-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001026579 | SCV002052183 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-15 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003493782 | SCV004243258 | likely benign | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing |