Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081378 | SCV000113309 | benign | not specified | 2013-01-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000081378 | SCV000517684 | benign | not specified | 2015-12-18 | 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 | RCV001514565 | SCV001722441 | benign | MOGS-congenital disorder of glycosylation | 2024-02-01 | criteria provided, single submitter | clinical testing |