Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000425895 | SCV000522303 | likely benign | not specified | 2016-02-08 | 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. |
Eurofins Ntd Llc |
RCV000726767 | SCV000702915 | uncertain significance | not provided | 2016-12-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087142 | SCV001019367 | likely benign | COG7 congenital disorder of glycosylation | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000726767 | SCV004141307 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | COG7: BP4, BP7 |