Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000423529 | SCV000532350 | likely benign | not specified | 2016-10-19 | 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. |
Ce |
RCV000761791 | SCV000891986 | uncertain significance | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000761791 | SCV001097680 | likely benign | not provided | 2018-11-27 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001172583 | SCV001335646 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |