Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000575743 | SCV000676310 | likely benign | Hereditary cancer-predisposing syndrome | 2016-09-13 | 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. |
Invitae | RCV003652046 | SCV001706770 | likely benign | Familial adenomatous polyposis 1 | 2023-07-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001764693 | SCV002008018 | likely benign | not provided | 2021-03-03 | criteria provided, single submitter | clinical testing |