Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000570737 | SCV000672573 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-10 | 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. |
Color Diagnostics, |
RCV000570737 | SCV000687001 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003537190 | SCV001593901 | likely benign | Familial adenomatous polyposis 1 | 2023-11-29 | criteria provided, single submitter | clinical testing |