Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000252035 | SCV000308721 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000252035 | SCV000513263 | benign | not specified | 2016-03-03 | 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 | RCV000552218 | SCV000642333 | 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, |
RCV001173582 | SCV001336681 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |