Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079294 | SCV000111164 | benign | not specified | 2012-12-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000079294 | SCV000167500 | 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. |
Invitae | RCV000203987 | SCV000262442 | benign | Long QT syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000244441 | SCV000317953 | benign | Cardiovascular phenotype | 2016-05-18 | 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 | RCV000717070 | SCV000847916 | benign | History of neurodevelopmental disorder | 2016-05-18 | 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 |
ARUP Laboratories, |
RCV001811361 | SCV001471063 | benign | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001811361 | SCV002544992 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | CACNA1C: BP4, BP7, BS1, BS2 |
Fulgent Genetics, |
RCV002498394 | SCV002813795 | benign | Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 | 2021-07-26 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000079294 | SCV001954860 | benign | not specified | no assertion criteria provided | clinical testing |