Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079301 | SCV000111171 | benign | not specified | 2014-03-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000200821 | SCV000252725 | benign | Long QT syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000251201 | SCV000317405 | benign | Cardiovascular phenotype | 2015-06-26 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000079301 | SCV000740554 | likely benign | not specified | 2017-05-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000715734 | SCV000846565 | benign | History of neurodevelopmental disorder | 2015-06-26 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
ARUP Laboratories, |
RCV001647053 | SCV001156904 | benign | not provided | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001647053 | SCV001857511 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000079301 | SCV001951547 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000079301 | SCV001978781 | benign | not specified | no assertion criteria provided | clinical testing |