Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001176409 | SCV001340385 | likely benign | Hereditary cancer-predisposing syndrome | 2019-01-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001176409 | SCV002658835 | likely benign | Hereditary cancer-predisposing syndrome | 2020-12-03 | 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 | RCV002558814 | SCV003316947 | likely benign | Familial adenomatous polyposis 2 | 2022-02-18 | criteria provided, single submitter | clinical testing |