Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079298 | SCV000111168 | benign | not specified | 2014-05-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000079298 | SCV000167505 | 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. |
Prevention |
RCV000079298 | SCV000305454 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000251547 | SCV000317643 | benign | Cardiovascular phenotype | 2015-09-04 | 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 |
Ambry Genetics | RCV000715230 | SCV000846058 | benign | History of neurodevelopmental disorder | 2015-09-04 | 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 |
Invitae | RCV000860304 | SCV001000316 | benign | Long QT syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001554654 | SCV001775926 | benign | Timothy syndrome | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000079298 | SCV001978497 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000079298 | SCV001979195 | benign | not specified | no assertion criteria provided | clinical testing |