Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037282 | SCV000060939 | benign | not specified | 2012-02-09 | criteria provided, single submitter | clinical testing | 27/3346 AA chromosomes (0.8%) - ESP/NHLBI |
Gene |
RCV000037282 | SCV000168242 | benign | not specified | 2013-05-29 | 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 | RCV000227265 | SCV000287234 | benign | Arrhythmogenic right ventricular dysplasia 10 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000776292 | SCV000911585 | benign | Cardiomyopathy | 2018-06-04 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000776292 | SCV004240501 | benign | Cardiomyopathy | 2023-06-07 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001528980 | SCV001741658 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000037282 | SCV001923797 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001528980 | SCV001931266 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001528980 | SCV001968237 | likely benign | not provided | no assertion criteria provided | clinical testing |