Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725714 | SCV000338780 | uncertain significance | not provided | 2017-03-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725714 | SCV000532501 | likely benign | not provided | 2019-03-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001089224 | SCV000632654 | likely benign | GNE myopathy; Sialuria | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725714 | SCV004157740 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | GNE: BP4, BP7 |
Prevention |
RCV003967746 | SCV004778580 | likely benign | GNE-related condition | 2020-07-02 | 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, |
RCV001274364 | SCV001458436 | likely benign | GNE myopathy | 2020-09-16 | no assertion criteria provided | clinical testing |