Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000370953 | SCV000384352 | uncertain significance | Congenital disorder of glycosylation | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000484568 | SCV000569516 | likely benign | not specified | 2017-05-22 | 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. |
Prevention |
RCV003969874 | SCV004781805 | likely benign | COG6-related condition | 2021-02-22 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |