Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000565794 | SCV000667408 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-08 | 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, |
RCV000565794 | SCV000904298 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003537111 | SCV001065689 | likely benign | Familial adenomatous polyposis 1 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002476233 | SCV002774092 | likely benign | not provided | 2021-08-20 | criteria provided, single submitter | clinical testing |