Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725360 | SCV000336319 | uncertain significance | not provided | 2016-09-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000366745 | SCV000532517 | likely benign | not specified | 2017-11-07 | 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 | RCV001080886 | SCV001017187 | likely benign | GNE myopathy; Sialuria | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920068 | SCV004734639 | likely benign | GNE-related condition | 2020-01-07 | 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). |
Natera, |
RCV001273957 | SCV001457587 | likely benign | GNE myopathy | 2020-01-02 | no assertion criteria provided | clinical testing |