Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000422691 | SCV000510684 | benign | not provided | 2016-10-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000440738 | SCV000518741 | benign | not specified | 2016-03-22 | 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 | RCV000552283 | SCV000641221 | benign | MOGS-congenital disorder of glycosylation | 2024-01-29 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000552283 | SCV004563835 | benign | MOGS-congenital disorder of glycosylation | 2023-11-06 | criteria provided, single submitter | clinical testing |