Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147126 | SCV000194486 | likely benign | not specified | 2015-05-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000147126 | SCV000514057 | benign | not specified | 2017-02-22 | 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. |
EGL Genetic Diagnostics, |
RCV000147126 | SCV000707530 | likely benign | not specified | 2017-04-13 | criteria provided, single submitter | clinical testing | |
DNA and Cytogenetics Diagnostics Unit, |
RCV000605004 | SCV000745097 | likely benign | Microcephalic osteodysplastic primordial dwarfism type 2 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000605004 | SCV000734108 | likely benign | Microcephalic osteodysplastic primordial dwarfism type 2 | no assertion criteria provided | clinical testing |