Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000147919 | SCV000169808 | benign | not specified | 2014-05-09 | 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. |
Genetic Services Laboratory, |
RCV000147919 | SCV000195412 | benign | not specified | 2013-03-27 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000270317 | SCV000411636 | uncertain significance | Primary Microcephaly 2 With or Without Cortical Malformations | 2016-06-14 | criteria provided, single submitter | clinical testing |