Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000581692 | SCV000689514 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-24 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780089 | SCV000917121 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000581692 | SCV001176112 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-02 | 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 | RCV002061797 | SCV002345569 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2024-01-08 | criteria provided, single submitter | clinical testing |