Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000529396 | SCV000632772 | likely benign | Juvenile polyposis syndrome | 2023-09-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002319036 | SCV001172853 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2019-03-21 | 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. |
Color Diagnostics, |
RCV001012411 | SCV001357357 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-19 | criteria provided, single submitter | clinical testing |