Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311150 | SCV000320263 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-10-11 | 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. |
Natera, |
RCV001276188 | SCV001462116 | likely benign | Classic homocystinuria | 2020-09-16 | no assertion criteria provided | clinical testing |