Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311926 | SCV000672019 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2016-09-16 | 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. |
Color Diagnostics, |
RCV000564029 | SCV001340291 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001468093 | SCV001672131 | likely benign | Juvenile polyposis syndrome | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV002268196 | SCV002551304 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004001086 | SCV004819997 | likely benign | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 2023-10-02 | criteria provided, single submitter | clinical testing |