Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000430353 | SCV000511681 | likely benign | not provided | 2017-02-08 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Gene |
RCV000480675 | SCV000565516 | benign | not specified | 2015-06-08 | 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. |