Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000123260 | SCV000166567 | likely benign | Juvenile polyposis syndrome | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399492 | SCV002706434 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2015-12-12 | 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. |
Color Diagnostics, |
RCV003584555 | SCV004362372 | likely benign | Hereditary cancer-predisposing syndrome | 2023-02-14 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997421 | SCV004815800 | likely benign | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 2023-02-24 | criteria provided, single submitter | clinical testing |