Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000568977 | SCV000667403 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-24 | 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 | RCV003537110 | SCV001091271 | likely benign | Familial adenomatous polyposis 1 | 2023-06-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001844199 | SCV002103478 | likely benign | not specified | 2022-02-09 | criteria provided, single submitter | clinical testing |