Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000562751 | SCV000667370 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-01 | 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. |
Gene |
RCV001704686 | SCV000729746 | likely benign | not provided | 2018-09-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003537104 | SCV001696473 | likely benign | Familial adenomatous polyposis 1 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000562751 | SCV002053627 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002265802 | SCV002547918 | likely benign | not specified | 2022-05-13 | criteria provided, single submitter | clinical testing |