Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037279 | SCV000060936 | likely benign | not specified | 2012-09-28 | criteria provided, single submitter | clinical testing | Ser700Ser in exon 14 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. Ser700Ser in exon 14 of DSG2 (allele frequenc y = n/a) |
Ambry Genetics | RCV002415468 | SCV002730376 | likely benign | Cardiovascular phenotype | 2021-01-07 | 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 | RCV003631086 | SCV004410375 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-12-14 | criteria provided, single submitter | clinical testing |