Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001190390 | SCV001357854 | likely benign | Hereditary cancer-predisposing syndrome | 2019-02-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193891 | SCV001363050 | likely benign | not specified | 2019-10-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002069115 | SCV002390472 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001190390 | SCV002707962 | likely benign | Hereditary cancer-predisposing syndrome | 2020-02-11 | 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. |