Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311940 | SCV000672037 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2017-05-30 | 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, |
RCV000568265 | SCV000691421 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000635508 | SCV000756922 | likely benign | Juvenile polyposis syndrome | 2023-08-20 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759348 | SCV000888627 | likely benign | not provided | 2017-09-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000759348 | SCV001815467 | likely benign | not provided | 2020-10-19 | criteria provided, single submitter | clinical testing |