Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000342378 | SCV000358644 | uncertain significance | Congenital disorder of glycosylation | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000402379 | SCV000358645 | uncertain significance | Congenital disorder of glycosylation type 1t | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000606435 | SCV000725438 | likely benign | not specified | 2017-11-30 | 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. |