Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000864016 | SCV001004757 | likely benign | Telangiectasia, hereditary hemorrhagic, type 5 | 2023-07-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002409024 | SCV002721382 | likely benign | Cardiovascular phenotype | 2019-08-05 | 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 |
RCV003884751 | SCV004698953 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | GDF2: BP4, BP7 |