Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000236159 | SCV000292592 | likely benign | not specified | 2017-09-29 | 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 | RCV000538255 | SCV000642352 | 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, |
RCV001174202 | SCV001337328 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |