Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037315 | SCV000060972 | likely benign | not specified | 2012-08-14 | criteria provided, single submitter | clinical testing | Val28Val in exon 3 of DSG2: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. Val28Val in exon 3 of DSG2 (allele frequency = n/a) |
Eurofins Ntd Llc |
RCV000724500 | SCV000228975 | uncertain significance | not provided | 2015-02-19 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001179086 | SCV001343676 | likely benign | Cardiomyopathy | 2018-10-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001457759 | SCV001661565 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444479 | SCV002680689 | likely benign | Cardiovascular phenotype | 2018-04-04 | 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. |