Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000581665 | SCV000691392 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315877 | SCV000739692 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2016-12-21 | 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 | RCV001465404 | SCV001669389 | likely benign | Juvenile polyposis syndrome | 2022-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003236820 | SCV003935847 | uncertain significance | not provided | 2023-06-22 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |