Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164464 | SCV000215108 | likely benign | Hereditary cancer-predisposing syndrome | 2014-07-31 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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, |
RCV000164464 | SCV000686287 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000928333 | SCV001073943 | likely benign | PTEN hamartoma tumor syndrome | 2023-09-14 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000928333 | SCV004838548 | likely benign | PTEN hamartoma tumor syndrome | 2023-11-02 | criteria provided, single submitter | clinical testing |