Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001427553 | SCV001630237 | likely benign | Ehlers-Danlos syndrome, type 4 | 2021-10-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002329474 | SCV002632995 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-11-04 | 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. |