Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000585214 | SCV000692758 | likely benign | not provided | 2017-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000611871 | SCV000720922 | likely benign | not specified | 2017-07-10 | 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. |
Invitae | RCV001086634 | SCV001003145 | likely benign | Charcot-Marie-Tooth disease axonal type 2C | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000585214 | SCV001146245 | benign | not provided | 2019-01-30 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001174130 | SCV001337251 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |