Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000244147 | SCV000311138 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000244147 | SCV000714861 | likely benign | not specified | 2017-07-13 | 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 | RCV002058193 | SCV002420323 | benign | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2024-02-01 | criteria provided, single submitter | clinical testing |