Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000329344 | SCV000338033 | benign | not specified | 2015-12-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000549032 | SCV000649103 | benign | Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000329344 | SCV000714946 | likely benign | not specified | 2017-08-25 | 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. |