Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000245886 | SCV000301930 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000840005 | SCV000981918 | benign | not provided | 2018-06-19 | 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. |
Genome- |
RCV001542824 | SCV001761206 | benign | Congenital myasthenic syndrome 4A | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001542825 | SCV001761207 | benign | Congenital myasthenic syndrome 4B | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001542826 | SCV001761208 | benign | Congenital myasthenic syndrome 4C | 2021-07-10 | criteria provided, single submitter | clinical testing |