Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000128282 | SCV000171874 | benign | not specified | 2014-01-28 | 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. |
Molecular Genetics Laboratory, |
RCV001172881 | SCV001335954 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Diagnostic Laboratory, |
RCV000609452 | SCV000734721 | benign | Neuropathy, hereditary sensory and autonomic, type 1A | no assertion criteria provided | clinical testing |