Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085280 | SCV000657927 | benign | Charcot-Marie-Tooth disease type 4 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000610689 | SCV000721168 | likely benign | not specified | 2017-07-18 | 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 | RCV000527958 | SCV001145613 | likely benign | not provided | 2019-03-11 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173207 | SCV001336288 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |