Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163637 | SCV000214205 | likely benign | Hereditary cancer-predisposing syndrome | 2016-09-16 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 | RCV000474873 | SCV000559215 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-08-27 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163637 | SCV000904008 | likely benign | Hereditary cancer-predisposing syndrome | 2018-01-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001175570 | SCV001339202 | likely benign | not specified | 2020-03-15 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995265 | SCV004828491 | likely benign | Lynch syndrome | 2023-06-08 | criteria provided, single submitter | clinical testing |