Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000425861 | SCV000528403 | likely benign | not specified | 2016-06-15 | 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. |
ARUP Laboratories, |
RCV000425861 | SCV000604447 | benign | not specified | 2017-01-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000531003 | SCV000639663 | likely benign | Charcot-Marie-Tooth disease type 2E | 2019-12-31 | criteria provided, single submitter | clinical testing |