Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235184 | SCV001619170 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003169171 | SCV003913097 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-12-23 | 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. |
Ce |
RCV003432825 | SCV004156748 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | COL5A1: BP4, BP7 |