Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124748 | SCV000168187 | benign | not specified | 2014-04-01 | 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, |
RCV001173852 | SCV001336968 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001510941 | SCV001718100 | benign | Neuronopathy, distal hereditary motor, autosomal recessive 5 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001510941 | SCV001875622 | benign | Neuronopathy, distal hereditary motor, autosomal recessive 5 | 2021-07-30 | criteria provided, single submitter | clinical testing |