Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000127904 | SCV000171490 | benign | not specified | 2013-10-15 | 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 | RCV000457379 | SCV000557249 | benign | Brugada syndrome 5 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000127904 | SCV001925501 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001701764 | SCV001927444 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001701764 | SCV001957387 | likely benign | not provided | no assertion criteria provided | clinical testing |