Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000225801 | SCV000290253 | benign | Adams-Oliver syndrome 5 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000591259 | SCV000709223 | likely benign | not specified | 2017-06-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705281 | SCV000715449 | likely benign | not provided | 2021-01-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313948 | SCV000739380 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-02-19 | 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. |
Genome- |
RCV000225801 | SCV002554925 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270038 | SCV002554926 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |