Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001707754 | SCV000718553 | likely benign | not provided | 2018-04-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001454557 | SCV001658287 | likely benign | Adams-Oliver syndrome 5 | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001454557 | SCV002554237 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270765 | SCV002554240 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160085 | SCV003861522 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-12-17 | 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. |
Ce |
RCV001707754 | SCV004161997 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | NOTCH1: BP4, BP7 |