Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000445318 | SCV000535996 | likely benign | not specified | 2017-01-10 | 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. |
Invitae | RCV001086382 | SCV000653930 | likely benign | Congenital myasthenic syndrome 8 | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000710488 | SCV000840722 | benign | not provided | 2018-03-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000710488 | SCV001334583 | likely benign | not provided | 2020-03-01 | criteria provided, single submitter | clinical testing |