Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000200777 | SCV000253435 | likely benign | Juvenile polyposis syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705151 | SCV000522033 | likely benign | not provided | 2019-01-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000771623 | SCV000904228 | likely benign | Hereditary cancer-predisposing syndrome | 2018-07-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318957 | SCV001182639 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2018-01-18 | 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. |