Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000939633 | SCV001085482 | likely benign | Juvenile polyposis syndrome | 2019-05-30 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002258061 | SCV002538345 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-04 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV003169417 | SCV003895996 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2023-03-02 | 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. |