Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003341829 | SCV004051328 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-07-13 | 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. |
Ce |
RCV003436019 | SCV004148275 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | COL3A1: BP4, BP7 |
Labcorp Genetics |
RCV003633708 | SCV004552752 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-11-14 | criteria provided, single submitter | clinical testing |