Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150545 | SCV000197771 | likely benign | not specified | 2015-03-23 | criteria provided, single submitter | clinical testing | p.Gly1028Ser in exon 15 of DSG2: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (72/9808) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs150864240). |
Gene |
RCV001704079 | SCV000233471 | likely benign | not provided | 2020-09-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000234244 | SCV000287239 | benign | Arrhythmogenic right ventricular dysplasia 10 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769520 | SCV000900915 | benign | Cardiomyopathy | 2023-05-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000769520 | SCV000913788 | benign | Cardiomyopathy | 2018-10-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002319444 | SCV002608715 | likely benign | Cardiovascular phenotype | 2018-05-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Clinical Genetics, |
RCV000150545 | SCV001917675 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001704079 | SCV001964591 | likely benign | not provided | no assertion criteria provided | clinical testing |