Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000841911 | SCV000983902 | likely benign | not provided | 2018-04-27 | 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. |
Labcorp Genetics |
RCV001086962 | SCV001014267 | likely benign | COG7 congenital disorder of glycosylation | 2024-12-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001086962 | SCV002812937 | likely benign | COG7 congenital disorder of glycosylation | 2022-01-24 | criteria provided, single submitter | clinical testing |