Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Integrated Genetics/Laboratory Corporation of America | RCV000029381 | SCV000052029 | benign | Wilson disease | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Benign. |
Genetic Services Laboratory, |
RCV000145285 | SCV000192362 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000145285 | SCV000227747 | benign | not specified | 2014-08-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000145285 | SCV000301727 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000145285 | SCV000518639 | benign | not specified | 2016-11-01 | 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. |
ARUP Laboratories, |
RCV000145285 | SCV000602613 | benign | not specified | 2016-12-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000029381 | SCV000626865 | benign | Wilson disease | 2018-01-03 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000029381 | SCV000733352 | likely benign | Wilson disease | no assertion criteria provided | clinical testing |