Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878774 | SCV001021738 | likely benign | Hereditary hemorrhagic telangiectasia | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003307659 | SCV004005058 | likely benign | Cardiovascular phenotype | 2023-05-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003489955 | SCV004241315 | likely benign | not specified | 2023-12-19 | criteria provided, single submitter | clinical testing |