Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001184570 | SCV001350590 | likely benign | Hereditary cancer-predisposing syndrome | 2019-02-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001184570 | SCV002707775 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-05 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003479287 | SCV004223107 | likely benign | not specified | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003505170 | SCV004353713 | likely benign | Familial adenomatous polyposis 2 | 2023-04-12 | criteria provided, single submitter | clinical testing |