Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079297 | SCV000111167 | benign | not specified | 2013-07-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000079297 | SCV000167474 | 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 |
RCV000079297 | SCV000305452 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000248885 | SCV000317419 | benign | Cardiovascular phenotype | 2015-03-09 | 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 |
Ambry Genetics | RCV000715385 | SCV000846214 | benign | History of neurodevelopmental disorder | 2015-03-09 | 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 |
Invitae | RCV000860167 | SCV001000118 | benign | Long QT syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001554436 | SCV001775681 | benign | Timothy syndrome | 2021-07-14 | criteria provided, single submitter | clinical testing |