Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000245888 | SCV000308774 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000245888 | SCV000513312 | benign | not specified | 2015-03-12 | 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- |
RCV001730616 | SCV001980852 | benign | Arrhythmogenic right ventricular dysplasia 12 | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001730615 | SCV001980853 | benign | Naxos disease | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002058105 | SCV002405134 | benign | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000245888 | SCV001743284 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000245888 | SCV001921653 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000245888 | SCV001931829 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000245888 | SCV001956113 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000245888 | SCV001964040 | benign | not specified | no assertion criteria provided | clinical testing | ||
Cohesion Phenomics | RCV003126654 | SCV003802973 | benign | Cardiomyopathy | 2022-09-23 | no assertion criteria provided | clinical testing |