Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003534361 | SCV000166055 | likely benign | Familial adenomatous polyposis 1 | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000162655 | SCV000213095 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-22 | 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, |
RCV000162655 | SCV000681849 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001640110 | SCV001859048 | benign | not provided | 2015-09-12 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000162655 | SCV002527434 | likely benign | Hereditary cancer-predisposing syndrome | 2020-05-10 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001640110 | SCV002774091 | likely benign | not provided | 2021-08-18 | criteria provided, single submitter | clinical testing |