Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000311276 | SCV000343082 | benign | not specified | 2016-07-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000311276 | SCV000532144 | likely benign | not specified | 2017-04-18 | 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. |
Athena Diagnostics Inc | RCV000311276 | SCV000615540 | likely benign | not specified | 2016-12-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000557316 | SCV000649015 | benign | Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2017-07-27 | criteria provided, single submitter | clinical testing |