Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035866 | SCV000059517 | likely benign | not specified | 2011-04-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000928877 | SCV001074498 | likely benign | Hypertrophic cardiomyopathy | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001180867 | SCV001345908 | likely benign | Cardiomyopathy | 2018-10-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345277 | SCV002620399 | likely benign | Cardiovascular phenotype | 2021-12-21 | 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. |