Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000606135 | SCV000713912 | likely benign | not specified | 2017-06-22 | 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. |
Invitae | RCV002062156 | SCV002389978 | likely benign | Hypertrophic cardiomyopathy | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000606135 | SCV001922734 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001724074 | SCV001951707 | likely benign | not provided | no assertion criteria provided | clinical testing |