Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079283 | SCV000111153 | benign | not specified | 2013-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000079283 | SCV000167483 | benign | not specified | 2011-07-10 | 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. |
Ambry Genetics | RCV000247755 | SCV000317516 | benign | Cardiovascular phenotype | 2015-06-23 | 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;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene |
Ambry Genetics | RCV000715437 | SCV000846266 | benign | History of neurodevelopmental disorder | 2015-06-23 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene |
Invitae | RCV000860432 | SCV001000486 | benign | Long QT syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000079283 | SCV001920115 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000079283 | SCV001957190 | benign | not specified | no assertion criteria provided | clinical testing |