Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704512 | SCV000532843 | likely benign | not provided | 2021-04-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000472213 | SCV000559916 | likely benign | Adams-Oliver syndrome 5 | 2024-01-20 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170171 | SCV001332721 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-03-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000472213 | SCV002555082 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270440 | SCV002555083 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001170171 | SCV002617317 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-07-07 | 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. |