Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003742754 | SCV000647623 | likely benign | Familial adenomatous polyposis 1 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000569785 | SCV000667798 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-08 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Color Diagnostics, |
RCV000569785 | SCV000687061 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-14 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003999410 | SCV004838139 | likely benign | Classic or attenuated familial adenomatous polyposis | 2023-10-02 | criteria provided, single submitter | clinical testing |