Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000427869 | SCV000520732 | benign | not specified | 2016-02-16 | 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. |
Center for Pediatric Genomic Medicine, |
RCV000515029 | SCV000610662 | likely benign | not provided | 2017-06-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001515764 | SCV001723909 | benign | Creatine transporter deficiency | 2024-02-01 | criteria provided, single submitter | clinical testing |