Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000221134 | SCV000278177 | likely benign | Hereditary cancer-predisposing syndrome | 2015-09-25 | 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. |
Invitae | RCV001439531 | SCV001642423 | likely benign | PTEN hamartoma tumor syndrome | 2023-07-19 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000221134 | SCV001735183 | likely benign | Hereditary cancer-predisposing syndrome | 2020-08-26 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001439531 | SCV004838557 | likely benign | PTEN hamartoma tumor syndrome | 2023-03-23 | criteria provided, single submitter | clinical testing |