Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000165174 | SCV000215886 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-27 | 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 | RCV001087785 | SCV000284847 | likely benign | Peutz-Jeghers syndrome | 2023-10-17 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000437245 | SCV000520435 | likely benign | not specified | 2016-06-13 | 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. |
| Color Diagnostics, |
RCV000165174 | SCV000691476 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-09 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV001087785 | SCV004818999 | likely benign | Peutz-Jeghers syndrome | 2023-03-04 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000437245 | SCV005076144 | likely benign | not specified | 2024-04-15 | criteria provided, single submitter | clinical testing |