Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000559158 | SCV000627929 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2024-01-09 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001000465 | SCV001157314 | likely benign | not specified | 2019-01-23 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170769 | SCV001333375 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-03-09 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001170769 | SCV001339899 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-09-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001170769 | SCV002635874 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-05-25 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001000465 | SCV004030041 | likely benign | not specified | 2023-07-13 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004003787 | SCV004814700 | likely benign | Marfan syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing |