Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311905 | SCV000671967 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2016-02-29 | 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, |
RCV000575196 | SCV000691404 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000942155 | SCV001088074 | likely benign | Juvenile polyposis syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000575196 | SCV002538307 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-14 | criteria provided, single submitter | curation |