Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000532488 | SCV000623650 | likely benign | Hypertrophic cardiomyopathy | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000620358 | SCV000740217 | likely benign | Cardiovascular phenotype | 2017-10-17 | 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. |
Color Diagnostics, |
RCV000772097 | SCV000905132 | likely benign | Cardiomyopathy | 2018-10-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001597154 | SCV001830865 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000772097 | SCV002042255 | likely benign | Cardiomyopathy | 2022-11-29 | criteria provided, single submitter | clinical testing |