Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000845532 | SCV000987646 | uncertain significance | not provided | criteria provided, single submitter | clinical testing | ||
Labcorp Genetics |
RCV002068635 | SCV002363745 | likely benign | Dilated cardiomyopathy 1W | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381903 | SCV002692893 | likely benign | Cardiovascular phenotype | 2019-05-22 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |