Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171620 | SCV000050655 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Labcorp Genetics |
RCV001084323 | SCV000627591 | likely benign | Long QT syndrome | 2025-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617997 | SCV000737776 | likely benign | Cardiovascular phenotype | 2017-11-07 | 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. |
Gene |
RCV000171620 | SCV001754365 | likely benign | not provided | 2020-01-09 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23861362) |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV005404312 | SCV006066115 | likely benign | not specified | 2025-04-09 | criteria provided, single submitter | clinical testing | BS1, BP4, BP6 |