Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000392229 | SCV000442347 | uncertain significance | Congenital disorder of glycosylation | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000840746 | SCV000982685 | likely benign | not provided | 2018-03-30 | 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. |
Invitae | RCV002061231 | SCV002321451 | benign | ALG3-congenital disorder of glycosylation | 2022-02-25 | criteria provided, single submitter | clinical testing |