Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124082 | SCV000167491 | 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. |
Preventiongenetics, |
RCV000124082 | SCV000305451 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000254466 | SCV000317420 | 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;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene |
Invitae | RCV000466502 | SCV000562895 | benign | Long QT syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000715546 | SCV000846375 | benign | History of neurodevelopmental disorder | 2015-06-26 | 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 |