Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000428244 | SCV000530848 | likely benign | not specified | 2017-06-09 | 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 | RCV000464572 | SCV000563201 | benign | Charcot-Marie-Tooth disease, dominant intermediate B | 2019-12-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000428244 | SCV001159765 | benign | not specified | 2018-08-09 | criteria provided, single submitter | clinical testing |