Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000565616 | SCV000667594 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-26 | 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 |
RCV001707744 | SCV000726413 | likely benign | not provided | 2021-06-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003537140 | SCV001081178 | likely benign | Familial adenomatous polyposis 1 | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000565616 | SCV004361425 | likely benign | Hereditary cancer-predisposing syndrome | 2022-11-06 | criteria provided, single submitter | clinical testing |