Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000724748 | SCV000231646 | uncertain significance | not provided | 2015-04-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000179401 | SCV000717403 | likely benign | not specified | 2017-10-19 | 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 | RCV001088646 | SCV001018378 | likely benign | Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001174201 | SCV001337327 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |