Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000463128 | SCV000559872 | likely benign | Adams-Oliver syndrome 5 | 2023-03-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001552267 | SCV001772924 | likely benign | not provided | 2018-10-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000463128 | SCV002554444 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270516 | SCV002554445 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003168902 | SCV003861095 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-03-11 | 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. |