Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000431066 | SCV000517967 | likely benign | not specified | 2016-04-21 | 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, |
RCV000580965 | SCV000686589 | likely benign | Hereditary cancer-predisposing syndrome | 2016-07-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002062298 | SCV002384728 | likely benign | Peutz-Jeghers syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing |