Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000648749 | SCV000770570 | likely benign | Aortic aneurysm, familial thoracic 7 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002424494 | SCV002740445 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-06-10 | 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. |
Fulgent Genetics, |
RCV002499107 | SCV002812463 | likely benign | Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 2021-10-12 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330863 | SCV004039388 | likely benign | not specified | 2023-08-24 | criteria provided, single submitter | clinical testing |