Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315099 | SCV000739446 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-08-16 | 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. |
Invitae | RCV002060678 | SCV002359842 | likely benign | Adams-Oliver syndrome 5 | 2023-06-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002060678 | SCV002555173 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270892 | SCV002555174 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |