Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV000624951 | SCV000743173 | likely benign | Long QT syndrome 11 | 2017-04-11 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001438446 | SCV001641319 | likely benign | Long QT syndrome | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343178 | SCV002650007 | likely benign | Cardiovascular phenotype | 2019-10-31 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003488736 | SCV004242117 | likely benign | not specified | 2023-12-10 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001701121 | SCV001923519 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001701121 | SCV001955210 | likely benign | not provided | no assertion criteria provided | clinical testing |