Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002527841 | SCV000647600 | likely benign | Familial adenomatous polyposis 1 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563639 | SCV000667462 | 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. |
Color Diagnostics, |
RCV000563639 | SCV000687030 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003326459 | SCV004032618 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | APC: BP4, BP7 |