Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000217572 | SCV000276576 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-24 | 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. |
Invitae | RCV001084446 | SCV000562196 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000217572 | SCV000686225 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-17 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588055 | SCV000697376 | likely benign | not specified | 2019-08-02 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000462024 | SCV001134606 | likely benign | not provided | 2022-12-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000462024 | SCV001942152 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing |