Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037278 | SCV000060935 | likely benign | not specified | 2012-02-21 | criteria provided, single submitter | clinical testing | Gly638Gly in exon 13 of DSG2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Gly638Gly in exon 13 of DSG2 (allele frequenc y = n/a) |
Illumina Laboratory Services, |
RCV000552026 | SCV000408236 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Gene |
RCV000037278 | SCV000512866 | benign | not specified | 2016-12-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000552026 | SCV000641968 | benign | Arrhythmogenic right ventricular dysplasia 10 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621273 | SCV000737978 | benign | Cardiovascular phenotype | 2017-04-07 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Color Diagnostics, |
RCV000771202 | SCV000903198 | benign | Cardiomyopathy | 2018-04-08 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000771202 | SCV002043139 | benign | Cardiomyopathy | 2020-12-22 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003996310 | SCV004819586 | benign | Arrhythmogenic right ventricular cardiomyopathy | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000037278 | SCV001919833 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000037278 | SCV001953450 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001725944 | SCV001966700 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000037278 | SCV001978140 | benign | not specified | no assertion criteria provided | clinical testing | ||
Prevention |
RCV003934906 | SCV004753670 | benign | DSG2-related disorder | 2024-02-07 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |