Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000420584 | SCV000515882 | benign | not specified | 2015-03-20 | 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. |
Invitae | RCV000962389 | SCV001109467 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
PXE International | RCV000499072 | SCV000589081 | pathogenic | Pseudoxanthoma elasticum | no assertion criteria provided | research |