Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000362549 | SCV000414738 | uncertain significance | Nemaline Myopathy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000609807 | SCV000718414 | likely benign | not specified | 2017-04-20 | 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. |