Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001482670 | SCV001687044 | likely benign | Hereditary hemorrhagic telangiectasia | 2023-10-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002432354 | SCV002729419 | likely benign | Cardiovascular phenotype | 2016-11-30 | 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. |