Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000116254 | SCV000150172 | benign | not specified | 2013-08-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000116254 | SCV000317006 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000116254 | SCV000519171 | benign | not specified | 2016-01-19 | 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 | RCV001520292 | SCV001729355 | benign | Congenital myasthenic syndrome 8 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001520292 | SCV001763362 | benign | Congenital myasthenic syndrome 8 | 2021-07-14 | criteria provided, single submitter | clinical testing |