Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731961 | SCV000859834 | uncertain significance | not provided | 2018-02-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165980 | SCV003857367 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-01-28 | 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. |
Invitae | RCV003629133 | SCV004446843 | likely benign | Aortic aneurysm, familial thoracic 4 | 2023-09-04 | criteria provided, single submitter | clinical testing |