Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000127679 | SCV000171258 | benign | not specified | 2014-04-28 | 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. |
Genome- |
RCV001795241 | SCV002033394 | benign | Martsolf syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001795242 | SCV002033396 | benign | Warburg micro syndrome 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002055765 | SCV002481549 | benign | Martsolf syndrome; Warburg micro syndrome 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000127679 | SCV001959513 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000127679 | SCV001976149 | benign | not specified | no assertion criteria provided | clinical testing |