Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001015846 | SCV001176726 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-20 | 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, |
RCV001015846 | SCV001353781 | likely benign | Hereditary cancer-predisposing syndrome | 2019-07-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003769478 | SCV002429191 | likely benign | Familial adenomatous polyposis 1 | 2023-07-06 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001015846 | SCV002537088 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-26 | criteria provided, single submitter | curation | |
All of Us Research Program, |
RCV004004551 | SCV004841712 | likely benign | Classic or attenuated familial adenomatous polyposis | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV004030375 | SCV004931790 | benign | Familial adenomatous polyposis 1 | 2024-02-22 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |