Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001001880 | SCV000641214 | likely benign | MOGS-congenital disorder of glycosylation | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001001880 | SCV001159607 | likely benign | MOGS-congenital disorder of glycosylation | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001550095 | SCV001770373 | likely benign | not provided | 2020-02-14 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23806237) |
Prevention |
RCV003935454 | SCV004752080 | benign | MOGS-related condition | 2019-06-27 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |