Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001696787 | SCV000535581 | likely benign | not provided | 2021-06-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000655293 | SCV000777223 | likely benign | Adams-Oliver syndrome 5 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000655293 | SCV002554367 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270483 | SCV002554368 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003168703 | SCV003861090 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-12-01 | 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. |