Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001396277 | SCV001598004 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2022-09-07 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004006870 | SCV004816594 | likely benign | Marfan syndrome | 2023-04-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004037766 | SCV005032535 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-10-15 | 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. |