Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000300402 | SCV000335986 | likely benign | not specified | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000300402 | SCV000527294 | likely benign | not specified | 2018-03-01 | 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. |
Invitae | RCV001078502 | SCV000649100 | benign | Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713624 | SCV000844250 | benign | not provided | 2017-09-18 | criteria provided, single submitter | clinical testing |