Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311930 | SCV000672024 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2016-12-21 | 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, |
RCV000574905 | SCV000691412 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000616931 | SCV000717748 | likely benign | not specified | 2018-02-28 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000866229 | SCV001007297 | likely benign | Juvenile polyposis syndrome | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000574905 | SCV002538320 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-13 | criteria provided, single submitter | curation |