Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000080013 | SCV000111906 | benign | not specified | 2012-10-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000080013 | SCV000520644 | benign | not specified | 2016-04-25 | 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. |
Counsyl | RCV000668556 | SCV000793178 | benign | MPI-congenital disorder of glycosylation | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000668556 | SCV002399777 | benign | MPI-congenital disorder of glycosylation | 2023-09-13 | criteria provided, single submitter | clinical testing |