Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250424 | SCV000317078 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000250424 | SCV000732363 | likely benign | not specified | 2017-04-11 | 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 | RCV002058486 | SCV002494947 | likely benign | Congenital myasthenic syndrome 8 | 2024-01-29 | criteria provided, single submitter | clinical testing |