Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000530316 | SCV000659433 | benign | Adams-Oliver syndrome 5 | 2023-06-25 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002315049 | SCV000739425 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-09-29 | 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. |
| Gene |
RCV000830676 | SCV000972411 | likely benign | not provided | 2018-06-13 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Genome- |
RCV000530316 | SCV002554459 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
| Genome- |
RCV002270694 | SCV002554462 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |