Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000615480 | SCV000714901 | benign | not specified | 2017-08-04 | 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 | RCV000641726 | SCV000763374 | benign | MOGS-congenital disorder of glycosylation | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003424171 | SCV004155075 | benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | MOGS: BP4, BP7, BS1, BS2 |