Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001211709 | SCV001383262 | likely benign | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2023-10-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002402626 | SCV002707168 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-11-11 | 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. |