Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000126730 | SCV000170242 | benign | not specified | 2014-01-20 | 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 | RCV000756327 | SCV000262133 | benign | Charcot-Marie-Tooth disease, type 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001283332 | SCV000884102 | benign | Basel-Vanagaite-Smirin-Yosef syndrome | 2020-08-05 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173681 | SCV001336783 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |