Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000609809 | SCV000721099 | likely benign | not specified | 2017-07-13 | 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. |
Color Diagnostics, |
RCV001181863 | SCV001347107 | likely benign | Cardiomyopathy | 2019-12-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001474514 | SCV001678685 | likely benign | Hypertrophic cardiomyopathy | 2023-01-10 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000609809 | SCV001979065 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001729654 | SCV001979662 | likely benign | not provided | no assertion criteria provided | clinical testing |