Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000865959 | SCV001247118 | likely benign | not provided | 2019-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002235163 | SCV001670146 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002332788 | SCV002627182 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-10-09 | 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. |