Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001474630 | SCV001678801 | likely benign | Telangiectasia, hereditary hemorrhagic, type 5 | 2019-06-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377811 | SCV002686368 | likely benign | Cardiovascular phenotype | 2022-09-17 | 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. |