Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000228423 | SCV000290600 | benign | Charcot-Marie-Tooth disease axonal type 2C | 2019-12-31 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000301536 | SCV000335797 | benign | not specified | 2015-10-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000301536 | SCV000514974 | likely benign | not specified | 2017-05-25 | 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, |
RCV001173287 | SCV001336370 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Athena Diagnostics Inc | RCV000301536 | SCV001475707 | benign | not specified | 2020-01-08 | criteria provided, single submitter | clinical testing |