Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556702 | SCV000653981 | benign | Congenital myasthenic syndrome 8 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000600561 | SCV000724541 | likely benign | not specified | 2017-11-10 | 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. |
Ce |
RCV003311845 | SCV004009709 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | AGRN: BS1 |