Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000614246 | SCV000728313 | likely benign | not specified | 2018-03-08 | 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 | RCV000647686 | SCV000769484 | benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000614246 | SCV001476212 | benign | not specified | 2019-12-27 | criteria provided, single submitter | clinical testing |