Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235151 | SCV001004942 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692302 | SCV001909318 | likely benign | not provided | 2021-04-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453948 | SCV002739987 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-07-16 | 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. |