Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001375612 | SCV001572526 | likely benign | not specified | 2021-04-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002070251 | SCV002437770 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003528295 | SCV004363555 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-11-21 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004006846 | SCV004836836 | likely benign | Marfan syndrome | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003528295 | SCV005113142 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2024-05-30 | 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. |