Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087556 | SCV000548926 | likely benign | Adams-Oliver syndrome 5 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000841472 | SCV000983440 | likely benign | not provided | 2021-05-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001087556 | SCV002555129 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002269868 | SCV002555130 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354306 | SCV002659931 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-12-31 | 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. |
ITMI | RCV000121708 | SCV000085906 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |