Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171905 | SCV000050907 | uncertain significance | Arrhythmogenic right ventricular cardiomyopathy | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000156218 | SCV000205934 | uncertain significance | not specified | 2014-08-27 | criteria provided, single submitter | clinical testing | The Ser1059Thr variant in DSG2 has been reported in the homozygous state in 1 Pa kistani individual with ARVD/C, though family members were not available for eva luation (Sen-Chowdhry 2007). This variant has also previously been identified by our laboratory in 1 Bangladeshi individual with clinical features of DCM. It ha s also been identified in 1/1740 chromosomes by the ClinSeq project (Ng 2013, db SNP rs201786158). Computational prediction tools and conservation analysis sugge st that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significan ce of the Ser1059Thr variant is uncertain. |
Color Diagnostics, |
RCV000771354 | SCV000903644 | likely benign | Cardiomyopathy | 2018-06-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000952596 | SCV001099111 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-10-26 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000771354 | SCV001332956 | benign | Cardiomyopathy | 2017-11-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001541501 | SCV001759508 | likely benign | not provided | 2020-12-31 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 17372169, 23861362) |
Ambry Genetics | RCV002321648 | SCV002609268 | likely benign | Cardiovascular phenotype | 2019-12-19 | 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. |
Revvity Omics, |
RCV001541501 | SCV004237828 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing |