Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036343 | SCV000059995 | likely benign | not specified | 2008-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000457052 | SCV000558815 | likely benign | Hypertrophic cardiomyopathy | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001184822 | SCV001350899 | likely benign | Cardiomyopathy | 2019-12-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001650860 | SCV001871049 | likely benign | not provided | 2021-03-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345288 | SCV002650155 | likely benign | Cardiovascular phenotype | 2021-02-09 | 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. |