Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000569567 | SCV000675251 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-24 | 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, |
RCV000569567 | SCV000913095 | likely benign | Hereditary cancer-predisposing syndrome | 2018-01-29 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002530344 | SCV003486177 | likely benign | Peutz-Jeghers syndrome | 2023-09-29 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV002530344 | SCV004816398 | likely benign | Peutz-Jeghers syndrome | 2023-08-28 | criteria provided, single submitter | clinical testing |