Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150526 | SCV000197730 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | Gln116Gln in exon 3 of DSC2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 3/7016 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs137941742). |
Ambry Genetics | RCV000247614 | SCV000318804 | likely benign | Cardiovascular phenotype | 2017-04-15 | 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. |
Invitae | RCV000460259 | SCV000561709 | likely benign | Arrhythmogenic right ventricular dysplasia 11 | 2023-12-26 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769502 | SCV000900897 | likely benign | Cardiomyopathy | 2021-05-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000769502 | SCV000913798 | likely benign | Cardiomyopathy | 2018-10-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001531281 | SCV001746309 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | DSC2: BP4, BP7 |
Gene |
RCV001531281 | SCV001948772 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000150526 | SCV001920696 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001531281 | SCV001959275 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001531281 | SCV001968250 | likely benign | not provided | no assertion criteria provided | clinical testing |