Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162751 | SCV000213226 | likely benign | Hereditary cancer-predisposing syndrome | 2015-05-15 | 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 | RCV002228553 | SCV000282782 | likely benign | Familial adenomatous polyposis 1 | 2023-12-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000586455 | SCV000535530 | likely benign | not provided | 2019-01-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162751 | SCV000681750 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-06 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000420472 | SCV000694080 | likely benign | not specified | 2019-08-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000586455 | SCV000805437 | likely benign | not provided | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000586455 | SCV001469315 | likely benign | not provided | 2020-04-03 | criteria provided, single submitter | clinical testing |