Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000260873 | SCV000342540 | uncertain significance | not provided | 2016-12-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085046 | SCV000632647 | likely benign | GNE myopathy; Sialuria | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000260873 | SCV000982962 | likely benign | not provided | 2018-04-09 | 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. |
Natera, |
RCV001273952 | SCV001457579 | uncertain significance | GNE myopathy | 2020-01-17 | no assertion criteria provided | clinical testing |