Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599971 | SCV000722652 | likely benign | not specified | 2017-09-05 | 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. |
Athena Diagnostics Inc | RCV000711529 | SCV000841907 | benign | not provided | 2018-06-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081409 | SCV001002754 | likely benign | Charcot-Marie-Tooth disease, axonal, type 2O | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000711529 | SCV001334502 | likely benign | not provided | 2020-03-01 | criteria provided, single submitter | clinical testing |