Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000231458 | SCV000284837 | likely benign | Peutz-Jeghers syndrome | 2023-12-17 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000436493 | SCV000514803 | likely benign | not specified | 2016-05-31 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Ambry Genetics | RCV000563230 | SCV000672314 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-18 | 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, |
RCV000563230 | SCV000691460 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-24 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000436493 | SCV002041556 | likely benign | not specified | 2021-11-25 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV000231458 | SCV004818954 | likely benign | Peutz-Jeghers syndrome | 2023-03-07 | criteria provided, single submitter | clinical testing |