Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311907 | SCV000671974 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2016-03-22 | 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, |
RCV000567859 | SCV000691456 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002232643 | SCV000756928 | likely benign | Juvenile polyposis syndrome | 2023-08-07 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323621 | SCV004028922 | likely benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing |