Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759243 | SCV000888468 | uncertain significance | not provided | 2017-11-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001504954 | SCV001709842 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334422 | SCV002643832 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-06 | 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. |