Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000713689 | SCV000231292 | uncertain significance | not provided | 2017-12-11 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000179096 | SCV000597339 | likely benign | not specified | 2016-10-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080529 | SCV000649208 | likely benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000179096 | SCV000727157 | likely benign | not specified | 2018-02-01 | 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. |
Athena Diagnostics Inc | RCV000713689 | SCV000844316 | benign | not provided | 2018-06-19 | criteria provided, single submitter | clinical testing |