Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000204538 | SCV000261902 | benign | Charcot-Marie-Tooth disease, type 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000426883 | SCV000513585 | likely benign | not specified | 2015-08-07 | 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, |
RCV001282946 | SCV001159099 | benign | Basel-Vanagaite-Smirin-Yosef syndrome | 2020-04-27 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173683 | SCV001336785 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |