Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659522 | SCV000781348 | likely benign | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000871721 | SCV001013425 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2023-08-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001179864 | SCV001344661 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-11-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001562038 | SCV001784743 | likely benign | not provided | 2020-07-30 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004004198 | SCV004814849 | likely benign | Marfan syndrome | 2023-10-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001179864 | SCV005032539 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-09-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |