Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001287838 | SCV001474575 | likely benign | Telangiectasia, hereditary hemorrhagic, type 2 | 2019-10-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002430073 | SCV002730484 | likely benign | Cardiovascular phenotype | 2020-04-27 | 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. |
Invitae | RCV001287838 | SCV003250841 | likely benign | Telangiectasia, hereditary hemorrhagic, type 2 | 2023-11-14 | criteria provided, single submitter | clinical testing |