Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000393594 | SCV000385200 | uncertain significance | Charcot-Marie-Tooth disease, type 2 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000313195 | SCV000385201 | uncertain significance | Spinocerebellar Ataxia, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000367895 | SCV000385202 | uncertain significance | Intellectual Disability, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000840036 | SCV000981949 | likely benign | not provided | 2018-03-19 | 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. |