Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000839046 | SCV000980928 | benign | not provided | 2018-04-20 | 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. |
Labcorp Genetics |
RCV000839046 | SCV002403658 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002245708 | SCV002514952 | benign | Galloway-Mowat syndrome 1 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000839046 | SCV005291982 | benign | not provided | criteria provided, single submitter | not provided | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001724172 | SCV001958585 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001724172 | SCV001964795 | benign | not specified | no assertion criteria provided | clinical testing |