Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036321 | SCV000059973 | likely benign | not specified | 2008-03-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000629059 | SCV000749972 | likely benign | Hypertrophic cardiomyopathy | 2022-06-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426556 | SCV002742388 | likely benign | Cardiovascular phenotype | 2020-12-01 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV003486555 | SCV004239796 | likely benign | Cardiomyopathy | 2023-02-03 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003486555 | SCV004360784 | likely benign | Cardiomyopathy | 2022-11-06 | criteria provided, single submitter | clinical testing |