Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439139 | SCV000534241 | likely benign | not specified | 2016-11-23 | 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 | RCV001002454 | SCV001001331 | benign | Charcot-Marie-Tooth disease, dominant intermediate C | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000861108 | SCV001146658 | benign | not provided | 2019-01-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001002454 | SCV001160396 | likely benign | Charcot-Marie-Tooth disease, dominant intermediate C | 2018-07-31 | criteria provided, single submitter | clinical testing |