Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000181050 | SCV000317698 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-07-07 | 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. |
Illumina Laboratory Services, |
RCV000303185 | SCV000425511 | uncertain significance | Ehlers-Danlos syndrome, type 4 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001668346 | SCV001884022 | benign | not provided | 2019-08-30 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000181050 | SCV002041934 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-09-29 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000303185 | SCV002336056 | benign | Ehlers-Danlos syndrome, type 4 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000181050 | SCV000233325 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2012-12-26 | flagged submission | clinical testing | The variant is found in TAAD panel(s). |