Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000830660 | SCV000972395 | likely benign | not provided | 2018-06-14 | 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. |
Breakthrough Genomics, |
RCV000830660 | SCV005224334 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001723737 | SCV001951924 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001723737 | SCV001971510 | benign | not specified | no assertion criteria provided | clinical testing |